{ "data": [ { "entContent": { "approvedOn": "03-05-2015", "description": "ACMG ISV guidelines 2015", "namespace": "GN001", "notes": "", "references": [ { "source": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/25741868" } ], "shortTitle": "ACMG 2015-Guidelines", "specificationSource": "https://www.acmg.net/docs/Standards_Guidelines_for_the_Interpretation_of_Sequence_Variants.pdf", "tagNameSpaces": [ "001" ], "title": "Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology", "version": "1.0.0" }, "entId": "GN001", "entType": "SequenceVariantInterpretation", "ld": { "Assertion": [ { "entType": "Assertion", "ldhId": "135642237", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642237", "rev": "_inf5Alm--B" }, { "entType": "Assertion", "ldhId": "135642236", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642236", "rev": "_inf5Alm--A" }, { "entType": "Assertion", "ldhId": "135642234", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642234", "rev": "_inf5Ale--A" }, { "entType": "Assertion", "ldhId": "135642232", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642232", "rev": "_inf5Ale---" }, { "entType": "Assertion", "ldhId": "135642235", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642235", "rev": "_inf5Ale--_" }, { "entType": "Assertion", "ldhId": "135642233", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642233", "rev": "_inf5Alm--_" }, { "entType": "Assertion", "ldhId": "135642231", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642231", "rev": "_inf5Ale--_" } ], "CriteriaCode": [ { "entType": "CriteriaCode", "ldhId": "135639554", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639554", "rev": "_inf5Apm--I" }, { "entType": "CriteriaCode", "ldhId": "135639546", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639546", "rev": "_inf5Apm--G" }, { "entType": "CriteriaCode", "ldhId": "135639545", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639545", "rev": "_inf5Apm--F" }, { "entType": "CriteriaCode", "ldhId": "135639543", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639543", "rev": "_inf5Ap2--h" }, { "entType": "CriteriaCode", "ldhId": "135639538", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639538", "rev": "_inf5Atm--b" }, { "entType": "CriteriaCode", "ldhId": "638432758", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/638432758", "rev": "_inf5Ap6--l" }, { "entType": "CriteriaCode", "ldhId": "135639550", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639550", "rev": "_inf5Ap2--j" }, { "entType": "CriteriaCode", "ldhId": "135639539", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639539", "rev": "_inf5Ap6--k" }, { "entType": "CriteriaCode", "ldhId": "135639535", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639535", "rev": "_inf5Aq---_" }, { "entType": "CriteriaCode", "ldhId": "135639531", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639531", "rev": "_inf5Ap6--j" }, { "entType": "CriteriaCode", "ldhId": "638432759", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/638432759", "rev": "_inf5Ap2--k" }, { "entType": "CriteriaCode", "ldhId": "135639555", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639555", "rev": "_inf5Apu--T" }, { "entType": "CriteriaCode", "ldhId": "135639549", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639549", "rev": "_inf5Aq---B" }, { "entType": "CriteriaCode", "ldhId": "135639548", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639548", "rev": "_inf5Apu--R" }, { "entType": "CriteriaCode", "ldhId": "135639544", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639544", "rev": "_inf5Ap2--i" }, { "entType": "CriteriaCode", "ldhId": "135639541", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639541", "rev": "_inf5Aq---A" }, { "entType": "CriteriaCode", "ldhId": "135639537", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639537", "rev": "_inf5Apm--D" }, { "entType": "CriteriaCode", "ldhId": "135639553", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639553", "rev": "_inf5Apu--S" }, { "entType": "CriteriaCode", "ldhId": "135639551", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639551", "rev": "_inf5Apm--H" }, { "entType": "CriteriaCode", "ldhId": "135639547", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639547", "rev": "_inf5Apu--Q" }, { "entType": "CriteriaCode", "ldhId": "135639542", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639542", "rev": "_inf5Apu--P" }, { "entType": "CriteriaCode", "ldhId": "135639540", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639540", "rev": "_inf5Apm--E" }, { "entType": "CriteriaCode", "ldhId": "135639534", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639534", "rev": "_inf5Ap2--f" }, { "entType": "CriteriaCode", "ldhId": "135639533", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639533", "rev": "_inf5Apm--C" }, { "entType": "CriteriaCode", "ldhId": "135639532", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639532", "rev": "_inf5Apu--O" }, { "entType": "CriteriaCode", "ldhId": "135639552", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639552", "rev": "_inf5Aq---C" }, { "entType": "CriteriaCode", "ldhId": "135639536", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639536", "rev": "_inf5Ap2--g" }, { "entType": "CriteriaCode", "ldhId": "135639530", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639530", "rev": "_inf5Apm--B" } ], "EvidenceCategory": [ { "entType": "EvidenceCategory", "ldhId": "135642487", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642487", "rev": "_inf5Asi--_" }, { "entType": "EvidenceCategory", "ldhId": "135642492", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642492", "rev": "_inf5Asm--t" }, { "entType": "EvidenceCategory", "ldhId": "135642491", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642491", "rev": "_inf5Asi--B" }, { "entType": "EvidenceCategory", "ldhId": "135642489", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642489", "rev": "_inf5Asm--o" }, { "entType": "EvidenceCategory", "ldhId": "135642486", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642486", "rev": "_inf5AsS--_" }, { "entType": "EvidenceCategory", "ldhId": "135642485", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642485", "rev": "_inf5Asi---" }, { "entType": "EvidenceCategory", "ldhId": "135642490", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642490", "rev": "_inf5Asm--r" }, { "entType": "EvidenceCategory", "ldhId": "135642488", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642488", "rev": "_inf5Asi--A" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "135641113", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/135641113", "rev": "_jSxpWhi--A" } ], "SequenceVariantInterpretation": [ { "created": "2025-10-07T17:37:53.717Z", "entId": "GN227", "entType": "SequenceVariantInterpretation", "ldhId": "520573069", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/520573069", "rev": "_lZXHJKm---" }, { "created": "2025-07-24T19:01:57.291Z", "entId": "GN221", "entType": "SequenceVariantInterpretation", "ldhId": "469246165", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/469246165", "rev": "_khEckBu---" }, { "created": "2025-04-17T12:02:16.257Z", "entId": "GN220", "entType": "SequenceVariantInterpretation", "ldhId": "268592707", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/268592707", "rev": "_lXsNFqG---" }, { "created": "2025-01-22T16:45:15.354Z", "entId": "GN213", "entType": "SequenceVariantInterpretation", "ldhId": "100774084", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/100774084", "rev": "_k5jA85----" }, { "created": "2025-01-13T14:49:38.975Z", "entId": "GN211", "entType": "SequenceVariantInterpretation", "ldhId": "100042372", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/100042372", "rev": "_jtKNxcS--r" }, { "created": "2024-08-08T07:17:42.862Z", "entId": "GN206", "entType": "SequenceVariantInterpretation", "ldhId": "1828933901", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1828933901", "rev": "_inf5BXO--a" }, { "created": "2024-08-08T06:16:46.542Z", "entId": "GN204", "entType": "SequenceVariantInterpretation", "ldhId": "1828927302", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1828927302", "rev": "_inf5BXW--7" }, { "created": "2024-08-07T09:59:49.258Z", "entId": "GN201", "entType": "SequenceVariantInterpretation", "ldhId": "1828825464", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1828825464", "rev": "_inf5BXO--V" }, { "created": "2024-08-07T06:19:04.248Z", "entId": "GN199", "entType": "SequenceVariantInterpretation", "ldhId": "1828803585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1828803585", "rev": "_inf5BXm--J" }, { "created": "2024-08-06T12:49:02.097Z", "entId": "GN194", "entType": "SequenceVariantInterpretation", "ldhId": "1828709559", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1828709559", "rev": "_inf5BXW--0" }, { "created": "2024-07-15T18:15:04.593Z", "entId": "GN189", "entType": "SequenceVariantInterpretation", "ldhId": "1812104356", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1812104356", "rev": "_j9BqkCO---" }, { "created": "2024-07-08T22:09:14.302Z", "entId": "GN181", "entType": "SequenceVariantInterpretation", "ldhId": "1807909298", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1807909298", "rev": "_inf5BXm--F" }, { "created": "2024-05-16T18:21:47.123Z", "entId": "GN178", "entType": "SequenceVariantInterpretation", "ldhId": "1795775084", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1795775084", "rev": "_kuMVoIS---" }, { "created": "2024-04-19T17:56:19.827Z", "entId": "GN177", "entType": "SequenceVariantInterpretation", "ldhId": "1780341902", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1780341902", "rev": "_inf5BXW--O" }, { "created": "2024-03-15T12:25:56.710Z", "entId": "GN173", "entType": "SequenceVariantInterpretation", "ldhId": "1745680620", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1745680620", "rev": "_lOl9kCS---" }, { "created": "2023-12-19T19:18:04.435Z", "entId": "GN163", "entType": "SequenceVariantInterpretation", "ldhId": "1670130990", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1670130990", "rev": "_jHRE01G---" }, { "created": "2023-11-02T19:33:25.416Z", "entId": "GN157", "entType": "SequenceVariantInterpretation", "ldhId": "1623526670", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1623526670", "rev": "_lU4tcAu---" }, { "created": "2023-10-16T13:25:03.384Z", "entId": "GN154", "entType": "SequenceVariantInterpretation", "ldhId": "1621633617", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1621633617", "rev": "_inf5BXi--a" }, { "created": "2023-09-04T12:30:11.735Z", "entId": "GN152", "entType": "SequenceVariantInterpretation", "ldhId": "1616836621", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1616836621", "rev": "_inf5BXe--Z" }, { "entId": "GN146", "entType": "SequenceVariantInterpretation", "ldhId": "1613756497", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1613756497", "rev": "_inf5BXW--5" }, { "entId": "GN143", "entType": "SequenceVariantInterpretation", "ldhId": "1612106813", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1612106813", "rev": "_inf5BXm--D" }, { "entId": "GN139", "entType": "SequenceVariantInterpretation", "ldhId": "1578297058", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1578297058", "rev": "_lJ0ydrC---" }, { "entId": "GN131", "entType": "SequenceVariantInterpretation", "ldhId": "1572290283", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1572290283", "rev": "_inf5BXe--J" }, { "entId": "GN123", "entType": "SequenceVariantInterpretation", "ldhId": "1567643911", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1567643911", "rev": "_lSs-Pyi--D" }, { "entId": "GN111", "entType": "SequenceVariantInterpretation", "ldhId": "1561019304", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1561019304", "rev": "_inf5BXe--H" }, { "entId": "GN107", "entType": "SequenceVariantInterpretation", "ldhId": "1553377025", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1553377025", "rev": "_kLJkmkC---" }, { "entId": "GN104", "entType": "SequenceVariantInterpretation", "ldhId": "1536422161", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1536422161", "rev": "_kjZo0Hu---" }, { "entId": "GN100", "entType": "SequenceVariantInterpretation", "ldhId": "1535827397", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1535827397", "rev": "_inf5BXm--A" }, { "entId": "GN099", "entType": "SequenceVariantInterpretation", "ldhId": "1535826188", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1535826188", "rev": "_inf5BXW--Q" }, { "entId": "GN092", "entType": "SequenceVariantInterpretation", "ldhId": "1530970787", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1530970787", "rev": "_jCgb4Y----" }, { "entId": "GN082", "entType": "SequenceVariantInterpretation", "ldhId": "1528071527", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1528071527", "rev": "_kXXnzvO---" }, { "entId": "GN077", "entType": "SequenceVariantInterpretation", "ldhId": "1526222356", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1526222356", "rev": "_k-pVgJq---" }, { "entId": "GN073", "entType": "SequenceVariantInterpretation", "ldhId": "643243143", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243143", "rev": "_kLJi5Ky---" }, { "entId": "GN072", "entType": "SequenceVariantInterpretation", "ldhId": "643243142", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243142", "rev": "_kLJiasa---" }, { "entId": "GN062", "entType": "SequenceVariantInterpretation", "ldhId": "643243132", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243132", "rev": "_inf5BXe--E" }, { "entId": "GN058", "entType": "SequenceVariantInterpretation", "ldhId": "643243128", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243128", "rev": "_inf5BXK--A" }, { "entId": "GN057", "entType": "SequenceVariantInterpretation", "ldhId": "643243127", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243127", "rev": "_inf5BXK---" }, { "entId": "GN051", "entType": "SequenceVariantInterpretation", "ldhId": "643243121", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243121", "rev": "_inf5BXW---" }, { "entId": "GN048", "entType": "SequenceVariantInterpretation", "ldhId": "643243118", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243118", "rev": "_i2njpu---F" }, { "entId": "GN047", "entType": "SequenceVariantInterpretation", "ldhId": "643243117", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243117", "rev": "_i2nthBm--I" }, { "entId": "GN042", "entType": "SequenceVariantInterpretation", "ldhId": "643243112", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243112", "rev": "_lFuu0VG---" }, { "entId": "GN039", "entType": "SequenceVariantInterpretation", "ldhId": "643243109", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243109", "rev": "_k6Ix4Oy---" }, { "entId": "GN033", "entType": "SequenceVariantInterpretation", "ldhId": "643243103", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243103", "rev": "_lbVbPsq---" }, { "entId": "GN030", "entType": "SequenceVariantInterpretation", "ldhId": "643243100", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243100", "rev": "_inf5BXW--F" }, { "entId": "GN023", "entType": "SequenceVariantInterpretation", "ldhId": "643243093", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243093", "rev": "_inf5BXi--W" }, { "entId": "GN022", "entType": "SequenceVariantInterpretation", "ldhId": "643243092", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243092", "rev": "_lI7vlUS---" }, { "entId": "GN020", "entType": "SequenceVariantInterpretation", "ldhId": "639508985", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/639508985", "rev": "_kj6OCUS---" }, { "entId": "GN018", "entType": "SequenceVariantInterpretation", "ldhId": "467907148", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/467907148", "rev": "_inf5BXe--P" }, { "entId": "GN016", "entType": "SequenceVariantInterpretation", "ldhId": "135637589", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637589", "rev": "_inf5BXi--V" }, { "entId": "GN014", "entType": "SequenceVariantInterpretation", "ldhId": "135637587", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637587", "rev": "_inf5BXO--C" }, { "entId": "GN002", "entType": "SequenceVariantInterpretation", "ldhId": "135637574", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637574", "rev": "_inf5BXW--P" }, { "created": "2026-03-16T13:21:02.464Z", "entId": "GN235", "entType": "SequenceVariantInterpretation", "ldhId": "834031056", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/834031056", "rev": "_lNZMmBC---" }, { "created": "2025-10-13T20:04:07.288Z", "entId": "GN228", "entType": "SequenceVariantInterpretation", "ldhId": "522546466", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/522546466", "rev": "_kb6qSA----" }, { "created": "2025-08-22T13:53:44.984Z", "entId": "GN225", "entType": "SequenceVariantInterpretation", "ldhId": "485353356", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/485353356", "rev": "_lPscnKy---" }, { "created": "2025-04-15T18:43:21.514Z", "entId": "GN219", "entType": "SequenceVariantInterpretation", "ldhId": "267033870", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/267033870", "rev": "_kao0GNu---" }, { "created": "2025-04-15T18:34:07.502Z", "entId": "GN218", "entType": "SequenceVariantInterpretation", "ldhId": "267029376", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/267029376", "rev": "_knx-uIW---" }, { "created": "2025-01-17T14:48:55.636Z", "entId": "GN212", "entType": "SequenceVariantInterpretation", "ldhId": "100409941", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/100409941", "rev": "_k5jBKVi---" }, { "created": "2024-09-05T18:21:38.306Z", "entId": "GN207", "entType": "SequenceVariantInterpretation", "ldhId": "1833089217", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1833089217", "rev": "_jcxWv9a---" }, { "created": "2024-08-08T05:33:19.673Z", "entId": "GN202", "entType": "SequenceVariantInterpretation", "ldhId": "1828922453", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1828922453", "rev": "_inf5BXO--Z" }, { "created": "2024-08-07T07:48:37.787Z", "entId": "GN200", "entType": "SequenceVariantInterpretation", "ldhId": "1828812705", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1828812705", "rev": "_inf5BXW--3" }, { "created": "2024-07-19T19:49:04.158Z", "entId": "GN190", "entType": "SequenceVariantInterpretation", "ldhId": "1822909288", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1822909288", "rev": "_keevMdi---" }, { "created": "2024-07-15T17:15:58.386Z", "entId": "GN188", "entType": "SequenceVariantInterpretation", "ldhId": "1812076188", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1812076188", "rev": "_j9BqD0u--A" }, { "created": "2024-03-15T12:11:02.030Z", "entId": "GN172", "entType": "SequenceVariantInterpretation", "ldhId": "1745678696", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1745678696", "rev": "_inf5BXW--i" }, { "created": "2024-01-09T17:04:19.767Z", "entId": "GN164", "entType": "SequenceVariantInterpretation", "ldhId": "1670130991", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1670130991", "rev": "_k99LoA2---" }, { "created": "2023-12-11T19:18:59.444Z", "entId": "GN162", "entType": "SequenceVariantInterpretation", "ldhId": "1628062275", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1628062275", "rev": "_lUhZ1Ea---" }, { "created": "2023-11-28T12:20:17.547Z", "entId": "GN161", "entType": "SequenceVariantInterpretation", "ldhId": "1626639399", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1626639399", "rev": "_inf5BXO--J" }, { "created": "2023-11-27T19:42:21.202Z", "entId": "GN160", "entType": "SequenceVariantInterpretation", "ldhId": "1626566541", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1626566541", "rev": "_lbQLG3y---" }, { "created": "2023-11-13T13:33:12.920Z", "entId": "GN158", "entType": "SequenceVariantInterpretation", "ldhId": "1624749084", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1624749084", "rev": "_lZrGfyO---" }, { "created": "2023-10-26T09:39:20.930Z", "entId": "GN156", "entType": "SequenceVariantInterpretation", "ldhId": "1622722963", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1622722963", "rev": "_lIAY0LW---" }, { "entId": "GN150", "entType": "SequenceVariantInterpretation", "ldhId": "1616389153", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1616389153", "rev": "_i5q0edm---" }, { "entId": "GN147", "entType": "SequenceVariantInterpretation", "ldhId": "1615403520", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1615403520", "rev": "_inf5BXO--e" }, { "entId": "GN144", "entType": "SequenceVariantInterpretation", "ldhId": "1612839626", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1612839626", "rev": "_inf5BXi--Q" }, { "entId": "GN133", "entType": "SequenceVariantInterpretation", "ldhId": "1575651794", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1575651794", "rev": "_kxayXR6---" }, { "entId": "GN132", "entType": "SequenceVariantInterpretation", "ldhId": "1575650622", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1575650622", "rev": "_lXxFjO2---" }, { "entId": "GN130", "entType": "SequenceVariantInterpretation", "ldhId": "1572289348", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1572289348", "rev": "_inf5BXW--R" }, { "entId": "GN124", "entType": "SequenceVariantInterpretation", "ldhId": "1567863456", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1567863456", "rev": "_lSsAT8y---" }, { "entId": "GN122", "entType": "SequenceVariantInterpretation", "ldhId": "1567102241", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1567102241", "rev": "_lZoLThO---" }, { "entId": "GN119", "entType": "SequenceVariantInterpretation", "ldhId": "1566364238", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1566364238", "rev": "_lSr61sO---" }, { "entId": "GN118", "entType": "SequenceVariantInterpretation", "ldhId": "1565663255", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1565663255", "rev": "_inf5BXW--W" }, { "entId": "GN113", "entType": "SequenceVariantInterpretation", "ldhId": "1562840326", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1562840326", "rev": "_lSrwBrS---" }, { "entId": "GN112", "entType": "SequenceVariantInterpretation", "ldhId": "1562365900", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1562365900", "rev": "_j4SY-7C---" }, { "entId": "GN110", "entType": "SequenceVariantInterpretation", "ldhId": "1553964879", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1553964879", "rev": "_inf5BXe--G" }, { "entId": "GN097", "entType": "SequenceVariantInterpretation", "ldhId": "1535438831", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1535438831", "rev": "_jCgc4oG---" }, { "entId": "GN096", "entType": "SequenceVariantInterpretation", "ldhId": "1535377178", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1535377178", "rev": "_inf5BXW--P" }, { "entId": "GN094", "entType": "SequenceVariantInterpretation", "ldhId": "1532496138", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1532496138", "rev": "_i2nRALe--D" }, { "entId": "GN080", "entType": "SequenceVariantInterpretation", "ldhId": "1527859052", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1527859052", "rev": "_lXY94ja--D" }, { "entId": "GN076", "entType": "SequenceVariantInterpretation", "ldhId": "643243146", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243146", "rev": "_jCDzbo----" }, { "entId": "GN074", "entType": "SequenceVariantInterpretation", "ldhId": "643243144", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243144", "rev": "_kLJjl3e---" }, { "entId": "GN067", "entType": "SequenceVariantInterpretation", "ldhId": "643243137", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243137", "rev": "_jCDtf-O---" }, { "entId": "GN066", "entType": "SequenceVariantInterpretation", "ldhId": "643243136", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243136", "rev": "_inf5BXO---" }, { "entId": "GN061", "entType": "SequenceVariantInterpretation", "ldhId": "643243131", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243131", "rev": "_inf5BXW--L" }, { "entId": "GN054", "entType": "SequenceVariantInterpretation", "ldhId": "643243124", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243124", "rev": "_inf5BXe--B" }, { "entId": "GN049", "entType": "SequenceVariantInterpretation", "ldhId": "643243119", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243119", "rev": "_i2nUog----" }, { "entId": "GN045", "entType": "SequenceVariantInterpretation", "ldhId": "643243115", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243115", "rev": "_i2nq6Xq---" }, { "entId": "GN041", "entType": "SequenceVariantInterpretation", "ldhId": "643243111", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243111", "rev": "_lFutT-m---" }, { "entId": "GN038", "entType": "SequenceVariantInterpretation", "ldhId": "643243108", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243108", "rev": "_i2lVnNC---" }, { "entId": "GN037", "entType": "SequenceVariantInterpretation", "ldhId": "643243107", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243107", "rev": "_lbVaYha---" }, { "entId": "GN027", "entType": "SequenceVariantInterpretation", "ldhId": "643243097", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243097", "rev": "_lV2BhuG---" }, { "entId": "GN019", "entType": "SequenceVariantInterpretation", "ldhId": "635003679", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/635003679", "rev": "_kjX2MMG---" }, { "entId": "GN015", "entType": "SequenceVariantInterpretation", "ldhId": "135637588", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637588", "rev": "_inf5BXe--O" }, { "entId": "GN012", "entType": "SequenceVariantInterpretation", "ldhId": "135637584", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637584", "rev": "_inf5BXi--U" }, { "entId": "GN010", "entType": "SequenceVariantInterpretation", "ldhId": "135637582", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637582", "rev": "_inf5BXi--T" }, { "created": "2025-01-27T14:19:36.268Z", "entId": "GN214", "entType": "SequenceVariantInterpretation", "ldhId": "101200173", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/101200173", "rev": "_k_gyESy---" }, { "created": "2024-12-19T19:41:21.327Z", "entId": "GN209", "entType": "SequenceVariantInterpretation", "ldhId": "95061742", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/95061742", "rev": "_jUaJ3zC---" }, { "created": "2024-12-13T20:21:06.063Z", "entId": "GN208", "entType": "SequenceVariantInterpretation", "ldhId": "94412666", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/94412666", "rev": "_kWaj5I6---" }, { "created": "2024-08-08T06:52:07.469Z", "entId": "GN205", "entType": "SequenceVariantInterpretation", "ldhId": "1828930821", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1828930821", "rev": "_inf5BXi--A" }, { "created": "2024-07-15T14:27:44.637Z", "entId": "GN184", "entType": "SequenceVariantInterpretation", "ldhId": "1811993349", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1811993349", "rev": "_j9BnM0C---" }, { "created": "2024-07-12T19:06:09.590Z", "entId": "GN183", "entType": "SequenceVariantInterpretation", "ldhId": "1809151336", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1809151336", "rev": "_kwyfH7G---" }, { "created": "2024-05-20T14:56:06.231Z", "entId": "GN179", "entType": "SequenceVariantInterpretation", "ldhId": "1795775085", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1795775085", "rev": "_i5q1KQq---" }, { "created": "2024-04-11T14:46:52.549Z", "entId": "GN174", "entType": "SequenceVariantInterpretation", "ldhId": "1766861392", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1766861392", "rev": "_lXGJHAa---" }, { "created": "2024-01-12T21:03:37.485Z", "entId": "GN166", "entType": "SequenceVariantInterpretation", "ldhId": "1670130993", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1670130993", "rev": "_inf5BXO--I" }, { "created": "2023-11-22T23:37:09.958Z", "entId": "GN159", "entType": "SequenceVariantInterpretation", "ldhId": "1625925053", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1625925053", "rev": "_kPeVD5i---" }, { "created": "2023-10-16T13:37:37.011Z", "entId": "GN155", "entType": "SequenceVariantInterpretation", "ldhId": "1621636690", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1621636690", "rev": "_inf5BXW--J" }, { "created": "2023-09-03T22:43:14.954Z", "entId": "GN151", "entType": "SequenceVariantInterpretation", "ldhId": "1616784014", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1616784014", "rev": "_inf5BXe--L" }, { "entId": "GN149", "entType": "SequenceVariantInterpretation", "ldhId": "1616197506", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1616197506", "rev": "_inf5BXW--c" }, { "entId": "GN137", "entType": "SequenceVariantInterpretation", "ldhId": "1577628936", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1577628936", "rev": "_lJ0xIcm---" }, { "entId": "GN129", "entType": "SequenceVariantInterpretation", "ldhId": "1571601249", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1571601249", "rev": "_lSsDvpC---" }, { "entId": "GN116", "entType": "SequenceVariantInterpretation", "ldhId": "1565017043", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1565017043", "rev": "_lSr4Kc6---" }, { "entId": "GN101", "entType": "SequenceVariantInterpretation", "ldhId": "1535829270", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1535829270", "rev": "_inf5BXm--B" }, { "entId": "GN098", "entType": "SequenceVariantInterpretation", "ldhId": "1535821566", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1535821566", "rev": "_inf5BXm--_" }, { "entId": "GN090", "entType": "SequenceVariantInterpretation", "ldhId": "1529372862", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1529372862", "rev": "_inf5BXm--E" }, { "entId": "GN083", "entType": "SequenceVariantInterpretation", "ldhId": "1528072643", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1528072643", "rev": "_kXXoRMG---" }, { "entId": "GN075", "entType": "SequenceVariantInterpretation", "ldhId": "643243145", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243145", "rev": "_kLJkRP----" }, { "entId": "GN071", "entType": "SequenceVariantInterpretation", "ldhId": "643243141", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243141", "rev": "_k7vYLM----" }, { "entId": "GN070", "entType": "SequenceVariantInterpretation", "ldhId": "643243140", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243140", "rev": "_jCDyfzS---" }, { "entId": "GN065", "entType": "SequenceVariantInterpretation", "ldhId": "643243135", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243135", "rev": "_inf5BXW--J" }, { "entId": "GN056", "entType": "SequenceVariantInterpretation", "ldhId": "643243126", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243126", "rev": "_inf5BXi--O" }, { "entId": "GN055", "entType": "SequenceVariantInterpretation", "ldhId": "643243125", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243125", "rev": "_inf5BXe--C" }, { "entId": "GN053", "entType": "SequenceVariantInterpretation", "ldhId": "643243123", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243123", "rev": "_inf5BXe--A" }, { "entId": "GN046", "entType": "SequenceVariantInterpretation", "ldhId": "643243116", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243116", "rev": "_i2nsGyi---" }, { "entId": "GN043", "entType": "SequenceVariantInterpretation", "ldhId": "643243113", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243113", "rev": "_i2nl8by--A" }, { "entId": "GN040", "entType": "SequenceVariantInterpretation", "ldhId": "643243110", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243110", "rev": "_i2nM8u----" }, { "entId": "GN032", "entType": "SequenceVariantInterpretation", "ldhId": "643243102", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243102", "rev": "_lbVblsu---" }, { "entId": "GN031", "entType": "SequenceVariantInterpretation", "ldhId": "643243101", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243101", "rev": "_inf5BXe---" }, { "entId": "GN025", "entType": "SequenceVariantInterpretation", "ldhId": "643243095", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243095", "rev": "_i2x64Nu---" }, { "entId": "GN021", "entType": "SequenceVariantInterpretation", "ldhId": "639509375", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/639509375", "rev": "_kPRPmeW---" }, { "entId": "GN017", "entType": "SequenceVariantInterpretation", "ldhId": "467903868", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/467903868", "rev": "_ka7YRPu---" }, { "entId": "GN011", "entType": "SequenceVariantInterpretation", "ldhId": "135637583", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637583", "rev": "_inf5BXW--G" }, { "entId": "GN006", "entType": "SequenceVariantInterpretation", "ldhId": "135637578", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637578", "rev": "_jdH83dW---" }, { "entId": "GN004", "entType": "SequenceVariantInterpretation", "ldhId": "135637576", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637576", "rev": "_inf5BXW--Z" }, { "entId": "GN003", "entType": "SequenceVariantInterpretation", "ldhId": "135637575", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637575", "rev": "_lUMNG2----" }, { "created": "2026-04-08T13:30:53.496Z", "entId": "GN236", "entType": "SequenceVariantInterpretation", "ldhId": "1120413828", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1120413828", "rev": "_lUzH4LO---" }, { "created": "2026-02-24T22:21:21.014Z", "entId": "GN234", "entType": "SequenceVariantInterpretation", "ldhId": "785528311", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/785528311", "rev": "_lHE8Eu2---" }, { "created": "2025-12-11T15:31:10.717Z", "entId": "GN231", "entType": "SequenceVariantInterpretation", "ldhId": "494668047", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/494668047", "rev": "_lXbbwmO---" }, { "created": "2025-11-19T19:32:12.666Z", "entId": "GN229", "entType": "SequenceVariantInterpretation", "ldhId": "540166145", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/540166145", "rev": "_kn0YXQC---" }, { "created": "2025-08-19T18:59:36.146Z", "entId": "GN223", "entType": "SequenceVariantInterpretation", "ldhId": "485043389", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/485043389", "rev": "_khEdMtC---" }, { "created": "2024-08-04T21:10:35.495Z", "entId": "GN192", "entType": "SequenceVariantInterpretation", "ldhId": "1828498814", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1828498814", "rev": "_inf5BXe--f" }, { "created": "2024-07-15T15:18:33.766Z", "entId": "GN186", "entType": "SequenceVariantInterpretation", "ldhId": "1812027467", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1812027467", "rev": "_j9Bo71y---" }, { "created": "2024-03-14T14:41:32.999Z", "entId": "GN170", "entType": "SequenceVariantInterpretation", "ldhId": "1745574676", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1745574676", "rev": "_lOl7kZm---" }, { "created": "2024-02-26T04:23:08.462Z", "entId": "GN169", "entType": "SequenceVariantInterpretation", "ldhId": "1743586723", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1743586723", "rev": "_inf5BXi--_" }, { "created": "2024-02-06T19:06:30.805Z", "entId": "GN167", "entType": "SequenceVariantInterpretation", "ldhId": "1733815116", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1733815116", "rev": "_jG4Btqi---" }, { "created": "2024-01-12T19:53:00.859Z", "entId": "GN165", "entType": "SequenceVariantInterpretation", "ldhId": "1670130992", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1670130992", "rev": "_kwdljf----" }, { "created": "2023-09-13T17:01:34.347Z", "entId": "GN153", "entType": "SequenceVariantInterpretation", "ldhId": "1617736159", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1617736159", "rev": "_inf5BXW--E" }, { "entId": "GN138", "entType": "SequenceVariantInterpretation", "ldhId": "1578294885", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1578294885", "rev": "_lJ0x2Dy---" }, { "entId": "GN136", "entType": "SequenceVariantInterpretation", "ldhId": "1576926543", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1576926543", "rev": "_inf5BXe--W" }, { "entId": "GN135", "entType": "SequenceVariantInterpretation", "ldhId": "1576018567", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1576018567", "rev": "_inf5BXO--O" }, { "entId": "GN127", "entType": "SequenceVariantInterpretation", "ldhId": "1571593861", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1571593861", "rev": "_k6I9BlK---" }, { "entId": "GN126", "entType": "SequenceVariantInterpretation", "ldhId": "1570648177", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1570648177", "rev": "_jrjnWb6---" }, { "entId": "GN121", "entType": "SequenceVariantInterpretation", "ldhId": "1567011281", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1567011281", "rev": "_lSr8jua---" }, { "entId": "GN120", "entType": "SequenceVariantInterpretation", "ldhId": "1566365955", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1566365955", "rev": "_inf5BXW--c" }, { "entId": "GN115", "entType": "SequenceVariantInterpretation", "ldhId": "1564688410", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1564688410", "rev": "_lZebn0C---" }, { "entId": "GN114", "entType": "SequenceVariantInterpretation", "ldhId": "1564418400", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1564418400", "rev": "_lSr0RRq---" }, { "entId": "GN109", "entType": "SequenceVariantInterpretation", "ldhId": "1553923915", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1553923915", "rev": "_inf5BXW--S" }, { "entId": "GN108", "entType": "SequenceVariantInterpretation", "ldhId": "1553706895", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1553706895", "rev": "_jLDwNXu---" }, { "entId": "GN103", "entType": "SequenceVariantInterpretation", "ldhId": "1535831942", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1535831942", "rev": "_inf5BXe--Y" }, { "entId": "GN102", "entType": "SequenceVariantInterpretation", "ldhId": "1535830806", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1535830806", "rev": "_inf5BXm--C" }, { "entId": "GN091", "entType": "SequenceVariantInterpretation", "ldhId": "1529725529", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1529725529", "rev": "_k8riZXK---" }, { "entId": "GN088", "entType": "SequenceVariantInterpretation", "ldhId": "1529230095", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1529230095", "rev": "_lbOUMe----" }, { "entId": "GN086", "entType": "SequenceVariantInterpretation", "ldhId": "1528339111", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1528339111", "rev": "_ka7Z6Dy---" }, { "entId": "GN079", "entType": "SequenceVariantInterpretation", "ldhId": "1527857178", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1527857178", "rev": "_kXXnXFu---" }, { "entId": "GN068", "entType": "SequenceVariantInterpretation", "ldhId": "643243138", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243138", "rev": "_jCDuu-m---" }, { "entId": "GN063", "entType": "SequenceVariantInterpretation", "ldhId": "643243133", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243133", "rev": "_inf5BXW--N" }, { "entId": "GN060", "entType": "SequenceVariantInterpretation", "ldhId": "643243130", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243130", "rev": "_inf5BXW--B" }, { "entId": "GN050", "entType": "SequenceVariantInterpretation", "ldhId": "643243120", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243120", "rev": "_inf5BXe--_" }, { "entId": "GN044", "entType": "SequenceVariantInterpretation", "ldhId": "643243114", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243114", "rev": "_i2noq9m---" }, { "entId": "GN036", "entType": "SequenceVariantInterpretation", "ldhId": "643243106", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243106", "rev": "_lbVasMe---" }, { "entId": "GN035", "entType": "SequenceVariantInterpretation", "ldhId": "643243105", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243105", "rev": "_lbVa3dK---" }, { "entId": "GN034", "entType": "SequenceVariantInterpretation", "ldhId": "643243104", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243104", "rev": "_lbVbCGO---" }, { "entId": "GN029", "entType": "SequenceVariantInterpretation", "ldhId": "643243099", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243099", "rev": "_inf5BXW--C" }, { "entId": "GN024", "entType": "SequenceVariantInterpretation", "ldhId": "643243094", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243094", "rev": "_j8qUJhC---" }, { "entId": "GN005", "entType": "SequenceVariantInterpretation", "ldhId": "135637577", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637577", "rev": "_inf5BXe--M" }, { "created": "2026-01-09T16:01:01.321Z", "entId": "GN232", "entType": "SequenceVariantInterpretation", "ldhId": "572545819", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/572545819", "rev": "_lTj-9ZW---" }, { "created": "2025-12-08T19:44:24.064Z", "entId": "GN230", "entType": "SequenceVariantInterpretation", "ldhId": "544836218", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/544836218", "rev": "_lLP4xwW---" }, { "created": "2025-08-25T21:03:40.793Z", "entId": "GN226", "entType": "SequenceVariantInterpretation", "ldhId": "485570930", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/485570930", "rev": "_lN3-77O---" }, { "created": "2025-08-22T13:50:56.106Z", "entId": "GN224", "entType": "SequenceVariantInterpretation", "ldhId": "485353024", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/485353024", "rev": "_lPscgbS--A" }, { "created": "2025-08-19T18:55:48.189Z", "entId": "GN222", "entType": "SequenceVariantInterpretation", "ldhId": "485042903", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/485042903", "rev": "_kKMu--G---" }, { "created": "2025-04-15T18:13:45.411Z", "entId": "GN217", "entType": "SequenceVariantInterpretation", "ldhId": "267019563", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/267019563", "rev": "_kaozILi---" }, { "created": "2025-04-10T13:15:49.854Z", "entId": "GN216", "entType": "SequenceVariantInterpretation", "ldhId": "264962538", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/264962538", "rev": "_kaozoGW---" }, { "created": "2025-03-07T18:15:41.411Z", "entId": "GN215", "entType": "SequenceVariantInterpretation", "ldhId": "138943424", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/138943424", "rev": "_jVFP8mW---" }, { "created": "2025-01-03T17:54:31.091Z", "entId": "GN210", "entType": "SequenceVariantInterpretation", "ldhId": "99406713", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/99406713", "rev": "_jUau-7K---" }, { "created": "2024-08-08T05:48:17.023Z", "entId": "GN203", "entType": "SequenceVariantInterpretation", "ldhId": "1828924579", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1828924579", "rev": "_inf5BXm--K" }, { "created": "2024-08-07T05:41:57.355Z", "entId": "GN198", "entType": "SequenceVariantInterpretation", "ldhId": "1828799960", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1828799960", "rev": "_inf5BXi---" }, { "created": "2024-08-06T13:29:06.990Z", "entId": "GN197", "entType": "SequenceVariantInterpretation", "ldhId": "1828717572", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1828717572", "rev": "_inf5BXW--2" }, { "created": "2024-08-06T13:11:58.017Z", "entId": "GN196", "entType": "SequenceVariantInterpretation", "ldhId": "1828714229", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1828714229", "rev": "_inf5BXW--b" }, { "created": "2024-08-06T13:02:08.774Z", "entId": "GN195", "entType": "SequenceVariantInterpretation", "ldhId": "1828711993", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1828711993", "rev": "_inf5BXm--I" }, { "created": "2024-08-06T11:59:16.585Z", "entId": "GN193", "entType": "SequenceVariantInterpretation", "ldhId": "1828700842", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1828700842", "rev": "_inf5BXW--a" }, { "created": "2024-08-04T21:05:51.921Z", "entId": "GN191", "entType": "SequenceVariantInterpretation", "ldhId": "1828497822", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1828497822", "rev": "_inf5BXm--H" }, { "created": "2024-07-15T16:26:37.068Z", "entId": "GN187", "entType": "SequenceVariantInterpretation", "ldhId": "1812056141", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1812056141", "rev": "_j9BpbIu---" }, { "created": "2024-07-15T14:57:50.919Z", "entId": "GN185", "entType": "SequenceVariantInterpretation", "ldhId": "1812015331", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1812015331", "rev": "_j9BoUWy---" }, { "created": "2024-07-12T19:03:47.846Z", "entId": "GN182", "entType": "SequenceVariantInterpretation", "ldhId": "1809149589", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1809149589", "rev": "_ksjLy9a---" }, { "created": "2024-07-08T21:54:56.594Z", "entId": "GN180", "entType": "SequenceVariantInterpretation", "ldhId": "1807907463", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1807907463", "rev": "_j9BlkcS---" }, { "created": "2024-04-15T14:47:02.102Z", "entId": "GN176", "entType": "SequenceVariantInterpretation", "ldhId": "1780341901", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1780341901", "rev": "_l_Bm1ea---" }, { "created": "2024-04-12T19:01:29.308Z", "entId": "GN175", "entType": "SequenceVariantInterpretation", "ldhId": "1767024968", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1767024968", "rev": "_inf5BXO--Q" }, { "created": "2024-03-15T11:52:05.133Z", "entId": "GN171", "entType": "SequenceVariantInterpretation", "ldhId": "1745676386", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1745676386", "rev": "_inf5BXW--g" }, { "created": "2024-02-12T18:50:09.706Z", "entId": "GN168", "entType": "SequenceVariantInterpretation", "ldhId": "1742141534", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1742141534", "rev": "_jkfNEGu---" }, { "entId": "GN148", "entType": "SequenceVariantInterpretation", "ldhId": "1616103420", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1616103420", "rev": "_inf5BXO--W" }, { "entId": "GN145", "entType": "SequenceVariantInterpretation", "ldhId": "1612931797", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1612931797", "rev": "_inf5BXe--a" }, { "entId": "GN142", "entType": "SequenceVariantInterpretation", "ldhId": "1611476290", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1611476290", "rev": "_inf5BXW--C" }, { "entId": "GN141", "entType": "SequenceVariantInterpretation", "ldhId": "1610842289", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1610842289", "rev": "_kweD-yW---" }, { "entId": "GN140", "entType": "SequenceVariantInterpretation", "ldhId": "1610830615", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1610830615", "rev": "_inf5BXW--I" }, { "entId": "GN134", "entType": "SequenceVariantInterpretation", "ldhId": "1575652650", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1575652650", "rev": "_jh7ku5O---" }, { "entId": "GN128", "entType": "SequenceVariantInterpretation", "ldhId": "1571595292", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1571595292", "rev": "_i2naCjC---" }, { "entId": "GN125", "entType": "SequenceVariantInterpretation", "ldhId": "1568416522", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1568416522", "rev": "_l-9v5Ma---" }, { "entId": "GN117", "entType": "SequenceVariantInterpretation", "ldhId": "1565662061", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1565662061", "rev": "_inf5BXe--c" }, { "entId": "GN106", "entType": "SequenceVariantInterpretation", "ldhId": "1552193476", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1552193476", "rev": "_jrjlx3e---" }, { "entId": "GN105", "entType": "SequenceVariantInterpretation", "ldhId": "1537428517", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1537428517", "rev": "_lUQIg9W---" }, { "entId": "GN095", "entType": "SequenceVariantInterpretation", "ldhId": "1535304680", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1535304680", "rev": "_inf5BXe--X" }, { "entId": "GN093", "entType": "SequenceVariantInterpretation", "ldhId": "1530972301", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1530972301", "rev": "_inf5BXe--F" }, { "entId": "GN089", "entType": "SequenceVariantInterpretation", "ldhId": "1529292791", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1529292791", "rev": "_inf5BXO--F" }, { "entId": "GN087", "entType": "SequenceVariantInterpretation", "ldhId": "1528438490", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1528438490", "rev": "_i2oDz-6---" }, { "entId": "GN085", "entType": "SequenceVariantInterpretation", "ldhId": "1528338151", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1528338151", "rev": "_ka7X7Ju---" }, { "entId": "GN084", "entType": "SequenceVariantInterpretation", "ldhId": "1528074022", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1528074022", "rev": "_jUxYyTG--B" }, { "entId": "GN081", "entType": "SequenceVariantInterpretation", "ldhId": "1528062415", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1528062415", "rev": "_inf5BXW--T" }, { "entId": "GN078", "entType": "SequenceVariantInterpretation", "ldhId": "1527855755", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1527855755", "rev": "_jDHa6ZO---" }, { "entId": "GN069", "entType": "SequenceVariantInterpretation", "ldhId": "643243139", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243139", "rev": "_jlwPwAK---" }, { "entId": "GN064", "entType": "SequenceVariantInterpretation", "ldhId": "643243134", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243134", "rev": "_inf5BXi--P" }, { "entId": "GN059", "entType": "SequenceVariantInterpretation", "ldhId": "643243129", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243129", "rev": "_inf5BXe--D" }, { "entId": "GN052", "entType": "SequenceVariantInterpretation", "ldhId": "643243122", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243122", "rev": "_inf5BXW--A" }, { "entId": "GN028", "entType": "SequenceVariantInterpretation", "ldhId": "643243098", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243098", "rev": "_inf5BXi--N" }, { "entId": "GN026", "entType": "SequenceVariantInterpretation", "ldhId": "643243096", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243096", "rev": "_inf5BXO--S" }, { "entId": "GN009", "entType": "SequenceVariantInterpretation", "ldhId": "135637581", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637581", "rev": "_koJc3K6---" }, { "entId": "GN008", "entType": "SequenceVariantInterpretation", "ldhId": "135637580", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637580", "rev": "_lDisZM6---" }, { "entId": "GN007", "entType": "SequenceVariantInterpretation", "ldhId": "135637579", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637579", "rev": "_inf5BXW--F" }, { "entId": "GN013", "entType": "SequenceVariantInterpretation", "ldhId": "135637573", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637573", "rev": "_lTSMWXi--D" } ] }, "ldFor": { "Organization": [ { "entId": "ACMG", "entIri": "https://www.acmg.net", "entType": "Organization", "ldhId": "647188063", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/647188063", "rev": "_inf5B_G--U" } ] }, "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "modified": "2022-08-18T15:51:43.074Z", "modifier": "cspecAdministrator", "rev": "_inf5BXe---" }, { "entContent": { "approvedOn": "2024-04-22T15:42:55.213Z", "description": "\n ", "namespace": "GN002", "notes": "", "references": [ { "source": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/29300372" } ], "releaseNotes": "Updated ClinGen Cardiomyopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MYH7", "releasedUnderRevision": true, "shortTitle": "MYH7-associated inherited cardiomyopathies - adapted from ACMG/AMP", "specificationSource": "", "states": [ { "current": true, "event": { "modifiedBy": "makelly2", "name": "cspec-released", "prevState": "Approved For Release", "timeStamp": "2024-04-22T15:42:55.213Z" }, "name": "Released" }, { "current": false, "event": { "modifiedBy": "makelly2", "name": "cspec-reopened", "prevState": "Released", "timeStamp": "2022-12-02T21:18:52.580Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "makelly2", "name": "pilot-rules-submitted", "prevState": "Pilot Rules In Prep", "timeStamp": "2024-03-25T21:14:13.513Z" }, "name": "Pilot Rules Submitted" }, { "current": false, "event": { "modifiedBy": "sharriso", "name": "pilot-rules-reviewed", "prevState": "Pilot Rules Submitted", "timeStamp": "2024-02-05T15:43:53.213Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "sharriso", "name": "pilot-rules-approved", "prevState": "Pilot Rules Submitted", "timeStamp": "2024-03-27T16:44:47.105Z" }, "name": "Approved For Release" } ], "tagNameSpaces": [ "002" ], "title": "ClinGen Cardiomyopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MYH7 Version 2.0.0", "version": "2.0.0", "versioned": true }, "entId": "GN002", "entType": "SequenceVariantInterpretation", "ld": { "Assertion": [ { "entType": "Assertion", "ldhId": "135642232", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642232", "rev": "_inf5Ale---" }, { "entType": "Assertion", "ldhId": "135642231", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642231", "rev": "_inf5Ale--_" }, { "entType": "Assertion", "ldhId": "135642237", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642237", "rev": "_inf5Alm--B" }, { "entType": "Assertion", "ldhId": "135642236", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642236", "rev": "_inf5Alm--A" }, { "entType": "Assertion", "ldhId": "135642235", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642235", "rev": "_inf5Ale--_" }, { "entType": "Assertion", "ldhId": "135642233", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642233", "rev": "_inf5Alm--_" }, { "entType": "Assertion", "ldhId": "135642234", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642234", "rev": "_inf5Ale--A" } ], "CriteriaCode": [ { "entType": "CriteriaCode", "ldhId": "135637797", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637797", "rev": "_inf5Ap2--d" }, { "entType": "CriteriaCode", "ldhId": "135637796", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637796", "rev": "_inf5AqS--K" }, { "entType": "CriteriaCode", "ldhId": "135637795", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637795", "rev": "_inf5AqW--Z" }, { "entType": "CriteriaCode", "ldhId": "135637790", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637790", "rev": "_inf5AqG--l" }, { "entType": "CriteriaCode", "ldhId": "135637780", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637780", "rev": "_inf5AqS--D" }, { "entType": "CriteriaCode", "ldhId": "638432780", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/638432780", "rev": "_inf5AqW--a" }, { "entType": "CriteriaCode", "ldhId": "135637792", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637792", "rev": "_inf5Aq---I" }, { "entType": "CriteriaCode", "ldhId": "135637778", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637778", "rev": "_inf5AqS--H" }, { "entType": "CriteriaCode", "ldhId": "135637777", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637777", "rev": "_inf5AqS--E" }, { "entType": "CriteriaCode", "ldhId": "135637774", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637774", "rev": "_inf5AqG--n" }, { "entType": "CriteriaCode", "ldhId": "135637773", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637773", "rev": "_inf5AqW--X" }, { "entType": "CriteriaCode", "ldhId": "638432779", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/638432779", "rev": "_inf5Aq---H" }, { "entType": "CriteriaCode", "ldhId": "135637794", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637794", "rev": "_inf5AqW--T" }, { "entType": "CriteriaCode", "ldhId": "135637793", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637793", "rev": "_inf5AqW--Y" }, { "entType": "CriteriaCode", "ldhId": "135637791", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637791", "rev": "_inf5Aq---F" }, { "entType": "CriteriaCode", "ldhId": "135637788", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637788", "rev": "_inf5AqS--G" }, { "entType": "CriteriaCode", "ldhId": "135637785", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637785", "rev": "_inf5AqG--j" }, { "entType": "CriteriaCode", "ldhId": "135637783", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637783", "rev": "_inf5AqW--W" }, { "entType": "CriteriaCode", "ldhId": "135637775", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637775", "rev": "_inf5Aq---G" }, { "entType": "CriteriaCode", "ldhId": "135637789", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637789", "rev": "_inf5AqG--k" }, { "entType": "CriteriaCode", "ldhId": "135637787", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637787", "rev": "_inf5AqG--i" }, { "entType": "CriteriaCode", "ldhId": "135637786", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637786", "rev": "_inf5AqG--m" }, { "entType": "CriteriaCode", "ldhId": "135637784", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637784", "rev": "_inf5AqS--F" }, { "entType": "CriteriaCode", "ldhId": "135637782", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637782", "rev": "_inf5AqW--U" }, { "entType": "CriteriaCode", "ldhId": "135637779", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637779", "rev": "_inf5AqS--I" }, { "entType": "CriteriaCode", "ldhId": "135637772", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637772", "rev": "_inf5AqS--J" }, { "entType": "CriteriaCode", "ldhId": "135637781", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637781", "rev": "_inf5AqW--V" }, { "entType": "CriteriaCode", "ldhId": "135637776", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637776", "rev": "_inf5AqS--C" } ], "Disease": [ { "entId": "MONDO:0004994", "entIri": "http://purl.obolibrary.org/obo/MONDO_0004994", "entType": "Disease", "ldhId": "135641997", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135641997", "rev": "_kZ7vpCa---" }, { "entId": "MONDO:0005045", "entIri": "http://purl.obolibrary.org/obo/MONDO_0005045", "entType": "Disease", "ldhId": "135641999", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135641999", "rev": "_kZ7vqGG---" }, { "entId": "MONDO:0005021", "entIri": "http://purl.obolibrary.org/obo/MONDO_0005021", "entType": "Disease", "ldhId": "135641998", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135641998", "rev": "_kZ7vqBm---" }, { "entId": "MONDO:0009144", "entIri": "http://purl.obolibrary.org/obo/MONDO_0009144", "entType": "Disease", "ldhId": "135642000", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642000", "rev": "_kZ7wb7i---" }, { "entId": "MONDO:0005201", "entIri": "http://purl.obolibrary.org/obo/MONDO_0005201", "entType": "Disease", "ldhId": "135641996", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135641996", "rev": "_kZ7vsRa---" } ], "EvidenceCategory": [ { "entType": "EvidenceCategory", "ldhId": "135642488", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642488", "rev": "_inf5Asi--A" }, { "entType": "EvidenceCategory", "ldhId": "135642490", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642490", "rev": "_inf5Asm--r" }, { "entType": "EvidenceCategory", "ldhId": "135642485", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642485", "rev": "_inf5Asi---" }, { "entType": "EvidenceCategory", "ldhId": "135642491", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642491", "rev": "_inf5Asi--B" }, { "entType": "EvidenceCategory", "ldhId": "135642489", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642489", "rev": "_inf5Asm--o" }, { "entType": "EvidenceCategory", "ldhId": "135642487", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642487", "rev": "_inf5Asi--_" }, { "entType": "EvidenceCategory", "ldhId": "135642492", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642492", "rev": "_inf5Asm--t" }, { "entType": "EvidenceCategory", "ldhId": "135642486", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642486", "rev": "_inf5AsS--_" } ], "Gene": [ { "entId": "MYH7", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7577", "entType": "Gene", "ldhId": "135641799", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/135641799", "rev": "_inf5A8---D" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "135640453", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/135640453", "rev": "_inf5BHe--i" } ] }, "ldFor": { "Organization": [ { "entId": "50002", "entIri": "http://clinicalgenome.org/affiliation/50002", "entType": "Organization", "ldhId": "135637627", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/135637627", "rev": "_inf5B-2---" } ], "SequenceVariantInterpretation": [ { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" } ] }, "ldhId": "135637574", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637574", "modified": "2024-04-22T15:42:56.013Z", "modifier": "makelly2", "rev": "_inf5BXW--P" }, { "entContent": { "approvedOn": "2026-04-06T16:10:17.933Z", "description": "ACMG Classification Rules Specified for PTEN Variant Curation", "namespace": "GN003", "notes": "", "references": [ { "source": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/30311380" } ], "releaseNotes": "Minor Changes: \n1\\. Added disease name and MOI\n\n2\\. Updated PS3 and PS4 \\< and > signs to ≥ or ≤ if necessary", "shortTitle": "ACMG-PTEN Variant Curation Guideline", "specificationSource": "", "states": [ { "current": true, "event": { "modifiedBy": "JasmineBakerBCM", "name": "cspec-released", "prevState": "Approved For Release", "timeStamp": "2026-04-06T16:10:17.933Z" }, "name": "Released" }, { "current": false, "event": { "modifiedBy": "JasmineBakerBCM", "name": "cspec-reopened", "prevState": "Released", "timeStamp": "2026-02-25T19:16:22.342Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "JasmineBakerBCM", "name": "pilot-rules-submitted", "prevState": "Pilot Rules In Prep", "timeStamp": "2026-02-25T20:12:50.391Z" }, "name": "Pilot Rules Submitted" }, { "current": false, "event": { "modifiedBy": "sharriso", "name": "pilot-rules-reviewed", "prevState": "Pilot Rules Submitted", "timeStamp": "2023-02-23T20:17:15.118Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "alexadickson", "name": "pilot-rules-approved", "prevState": "Pilot Rules Submitted", "timeStamp": "2026-04-03T21:50:24.367Z" }, "name": "Approved For Release" } ], "tagNameSpaces": [ "003" ], "title": "ClinGen PTEN Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for PTEN Version 3.2.0", "type": "Richards et.al., 2015 - Combining rules", "version": "3.2.0", "versioned": true }, "entId": "GN003", "entType": "SequenceVariantInterpretation", "ld": { "Assertion": [ { "entType": "Assertion", "ldhId": "135642235", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642235", "rev": "_inf5Ale--_" }, { "entType": "Assertion", "ldhId": "135642234", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642234", "rev": "_inf5Ale--A" }, { "entType": "Assertion", "ldhId": "135642231", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642231", "rev": "_inf5Ale--_" }, { "entType": "Assertion", "ldhId": "135642237", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642237", "rev": "_inf5Alm--B" }, { "entType": "Assertion", "ldhId": "135642236", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642236", "rev": "_inf5Alm--A" }, { "entType": "Assertion", "ldhId": "135642233", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642233", "rev": "_inf5Alm--_" }, { "entType": "Assertion", "ldhId": "135642232", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642232", "rev": "_inf5Ale---" } ], "CriteriaCode": [ { "entType": "CriteriaCode", "ldhId": "135638191", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638191", "rev": "_lUMNHMS---" }, { "entType": "CriteriaCode", "ldhId": "135638182", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638182", "rev": "_lUMNHQu---" }, { "entType": "CriteriaCode", "ldhId": "135638181", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638181", "rev": "_lUMNHIa---" }, { "entType": "CriteriaCode", "ldhId": "135638175", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638175", "rev": "_lUMNHLi--B" }, { "entType": "CriteriaCode", "ldhId": "135638171", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638171", "rev": "_lUMNHQ---_" }, { "entType": "CriteriaCode", "ldhId": "135638170", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638170", "rev": "_lUMNHFO--A" }, { "entType": "CriteriaCode", "ldhId": "638432814", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/638432814", "rev": "_lUMNHGG---" }, { "entType": "CriteriaCode", "ldhId": "638432814", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/638432814", "rev": "_lUMNHGG---" }, { "entType": "CriteriaCode", "ldhId": "135638188", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638188", "rev": "_lUMNHUy---" }, { "entType": "CriteriaCode", "ldhId": "135638186", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638186", "rev": "_lUMNHNO---" }, { "entType": "CriteriaCode", "ldhId": "135638184", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638184", "rev": "_lUMNHRi---" }, { "entType": "CriteriaCode", "ldhId": "135638183", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638183", "rev": "_lUMNHO----" }, { "entType": "CriteriaCode", "ldhId": "638432814", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/638432814", "rev": "_lUMNHGG---" }, { "entType": "CriteriaCode", "ldhId": "135638193", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638193", "rev": "_lUMNHL2---" }, { "entType": "CriteriaCode", "ldhId": "135638190", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638190", "rev": "_lUMNHTW---" }, { "entType": "CriteriaCode", "ldhId": "135638187", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638187", "rev": "_lUMNHOO---" }, { "entType": "CriteriaCode", "ldhId": "135638178", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638178", "rev": "_lUMNHSm---" }, { "entType": "CriteriaCode", "ldhId": "135638176", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638176", "rev": "_lUMNHJu---" }, { "entType": "CriteriaCode", "ldhId": "135638174", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638174", "rev": "_lUMNHQa---" }, { "entType": "CriteriaCode", "ldhId": "135638169", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638169", "rev": "_lUMNHSO---" }, { "entType": "CriteriaCode", "ldhId": "135638168", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638168", "rev": "_lUMNHK2---" }, { "entType": "CriteriaCode", "ldhId": "135638192", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638192", "rev": "_lUMNHMq---" }, { "entType": "CriteriaCode", "ldhId": "135638179", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638179", "rev": "_lUMNHHW---" }, { "entType": "CriteriaCode", "ldhId": "135638177", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638177", "rev": "_lUMNHKi---" }, { "entType": "CriteriaCode", "ldhId": "135638172", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638172", "rev": "_lUMNHVS---" }, { "entType": "CriteriaCode", "ldhId": "638432815", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/638432815", "rev": "_lUMNHPO---" }, { "entType": "CriteriaCode", "ldhId": "638432815", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/638432815", "rev": "_lUMNHPO---" }, { "entType": "CriteriaCode", "ldhId": "135638189", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638189", "rev": "_lUMNHUO---" }, { "entType": "CriteriaCode", "ldhId": "135638185", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638185", "rev": "_lUMNHVu---" }, { "entType": "CriteriaCode", "ldhId": "135638180", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638180", "rev": "_lUMNHO2---" }, { "entType": "CriteriaCode", "ldhId": "135638173", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638173", "rev": "_lUMNHT2---" } ], "Disease": [ { "entId": "MONDO:0017623", "entIri": "http://purl.obolibrary.org/obo/MONDO_0017623", "entType": "Disease", "ldhId": "135642014", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642014", "rev": "_kZ7yNzy---" } ], "EvidenceCategory": [ { "entType": "EvidenceCategory", "ldhId": "135642492", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642492", "rev": "_inf5Asm--t" }, { "entType": "EvidenceCategory", "ldhId": "135642491", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642491", "rev": "_inf5Asi--B" }, { "entType": "EvidenceCategory", "ldhId": "135642486", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642486", "rev": "_inf5AsS--_" }, { "entType": "EvidenceCategory", "ldhId": "135642490", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642490", "rev": "_inf5Asm--r" }, { "entType": "EvidenceCategory", "ldhId": "135642488", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642488", "rev": "_inf5Asi--A" }, { "entType": "EvidenceCategory", "ldhId": "135642487", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642487", "rev": "_inf5Asi--_" }, { "entType": "EvidenceCategory", "ldhId": "135642489", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642489", "rev": "_inf5Asm--o" }, { "entType": "EvidenceCategory", "ldhId": "135642485", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642485", "rev": "_inf5Asi---" } ], "Gene": [ { "entId": "PTEN", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9588", "entType": "Gene", "ldhId": "135641805", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/135641805", "rev": "_inf5A8---E" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "135640513", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/135640513", "rev": "_lUMNG9e---" } ] }, "ldFor": { "Organization": [ { "entId": "50012", "entIri": "http://clinicalgenome.org/affiliation/50012", "entType": "Organization", "ldhId": "135637636", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/135637636", "rev": "_inf5B_----" } ], "SequenceVariantInterpretation": [ { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" } ] }, "ldhId": "135637575", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637575", "modified": "2026-04-06T16:10:18.342Z", "modifier": "JasmineBakerBCM", "rev": "_lUMNG2----" }, { "entContent": { "approvedOn": "2017-07-18T00:00:00.000Z", "description": "ACMG rules for RASopathy", "hideFlag": true, "legacy": true, "legacyReplaced": true, "namespace": "GN004", "notes": "These criteria should only be used to classify germline variants potentially associated with a RASopathy phenotype. Please note that these adapted criteria are not currently designed to classify variants relative to non-RASopathy phenotypes (e.g. loss of function variants in PTPN11 related to metachondromatosis); however, information about these other genotype:phenotype correlations are noted within the supplemental material. These criteria are also not designed to classify somatic variation in these genes. It is well-known that information about known somatic mutations can be utilized as supporting evidence for classifying variants relative to the RASopathy spectrum disorders given the disease mechanisms are directly correlated. Future initiatives in conjunction with the ClinGen somatic working group will aim to define this relationship in subsequent versions of this documentation. Currently, specific phenotype:genotype correlations regarding somatic variants should not be used as evidence to support germline pathogenicity.", "references": [ { "source": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/29493581" } ], "releaseNotes": "", "shortTitle": "ACMG variant classification (RASopathy)", "specificationSource": "https://www.clinicalgenome.org/docs/clingen-rasopathy-expert-panel-specifications-to-the-acmg-amp-variant-interpretation-guidelines-version-1/", "states": [ { "current": true, "event": { "name": "cspec-released", "prevState": "Approved For Release", "timeStamp": "2017-07-18T00:00:00.000Z" }, "name": "Released" } ], "tagNameSpaces": [ "004" ], "title": "ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1", "version": "1.0.0", "versioned": true }, "entId": "GN004", "entType": "SequenceVariantInterpretation", "ld": { "Assertion": [ { "entType": "Assertion", "ldhId": "135642236", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642236", "rev": "_inf5Alm--A" }, { "entType": "Assertion", "ldhId": "135642232", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642232", "rev": "_inf5Ale---" }, { "entType": "Assertion", "ldhId": "135642237", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642237", "rev": "_inf5Alm--B" }, { "entType": "Assertion", "ldhId": "135642231", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642231", "rev": "_inf5Ale--_" }, { "entType": "Assertion", "ldhId": "135642235", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642235", "rev": "_inf5Ale--_" }, { "entType": "Assertion", "ldhId": "135642234", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642234", "rev": "_inf5Ale--A" }, { "entType": "Assertion", "ldhId": "135642233", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642233", "rev": "_inf5Alm--_" } ], "CriteriaCode": [ { "entType": "CriteriaCode", "ldhId": "135638353", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638353", "rev": "_inf5Apy--T" }, { "entType": "CriteriaCode", "ldhId": "135638344", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638344", "rev": "_inf5Apm--Q" }, { "entType": "CriteriaCode", "ldhId": "135638343", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638343", "rev": "_inf5Ap2--_" }, { "entType": "CriteriaCode", "ldhId": "135638342", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638342", "rev": "_inf5Ap2---" }, { "entType": "CriteriaCode", "ldhId": "135638334", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638334", "rev": "_inf5Apm--O" }, { "entType": "CriteriaCode", "ldhId": "135638333", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638333", "rev": "_inf5Apu--B" }, { "entType": "CriteriaCode", "ldhId": "135638332", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638332", "rev": "_inf5Apy--B" }, { "entType": "CriteriaCode", "ldhId": "638432844", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/638432844", "rev": "_inf5Apy--I" }, { "entType": "CriteriaCode", "ldhId": "135638354", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638354", "rev": "_inf5Apu--g" }, { "entType": "CriteriaCode", "ldhId": "135638352", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638352", "rev": "_inf5Apa--X" }, { "entType": "CriteriaCode", "ldhId": "135638351", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638351", "rev": "_inf5Apu--f" }, { "entType": "CriteriaCode", "ldhId": "135638341", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638341", "rev": "_inf5Apy--D" }, { "entType": "CriteriaCode", "ldhId": "135638340", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638340", "rev": "_inf5Apu--C" }, { "entType": "CriteriaCode", "ldhId": "135638336", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638336", "rev": "_inf5Apy--C" }, { "entType": "CriteriaCode", "ldhId": "135638350", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638350", "rev": "_inf5Apa--W" }, { "entType": "CriteriaCode", "ldhId": "135638349", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638349", "rev": "_inf5Apy--E" }, { "entType": "CriteriaCode", "ldhId": "135638347", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638347", "rev": "_inf5Apy--S" }, { "entType": "CriteriaCode", "ldhId": "135638337", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638337", "rev": "_inf5Apa--U" }, { "entType": "CriteriaCode", "ldhId": "135638355", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638355", "rev": "_inf5Apy--F" }, { "entType": "CriteriaCode", "ldhId": "135638346", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638346", "rev": "_inf5Apm--S" }, { "entType": "CriteriaCode", "ldhId": "135638345", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638345", "rev": "_inf5Apm--R" }, { "entType": "CriteriaCode", "ldhId": "135638338", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638338", "rev": "_inf5Apa--V" }, { "entType": "CriteriaCode", "ldhId": "135638335", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638335", "rev": "_inf5Apy--s" }, { "entType": "CriteriaCode", "ldhId": "135638331", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638331", "rev": "_inf5Ape--T" }, { "entType": "CriteriaCode", "ldhId": "638432845", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/638432845", "rev": "_inf5Ape--K" }, { "entType": "CriteriaCode", "ldhId": "135638348", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638348", "rev": "_inf5Apm--T" }, { "entType": "CriteriaCode", "ldhId": "135638339", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638339", "rev": "_inf5Apm--P" }, { "entType": "CriteriaCode", "ldhId": "135638330", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638330", "rev": "_inf5Apy--A" } ], "Disease": [ { "entId": "MONDO:0021060", "entIri": "http://purl.obolibrary.org/obo/MONDO_0021060", "entType": "Disease", "ldhId": "135642039", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642039", "rev": "_inf5Bji--H" }, { "entId": "MONDO:0054637", "entIri": "http://purl.obolibrary.org/obo/MONDO_0054637", "entType": "Disease", "ldhId": "135642021", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642021", "rev": "_kZ7zzl6---" }, { "entId": "MONDO:0015280", "entIri": "http://purl.obolibrary.org/obo/MONDO_0015280", "entType": "Disease", "ldhId": "135642043", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642043", "rev": "_kZ7xu-C---" }, { "entId": "MONDO:0015280", "entIri": "http://purl.obolibrary.org/obo/MONDO_0015280", "entType": "Disease", "ldhId": "135642041", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642041", "rev": "_inf5BWm--i" }, { "entId": "MONDO:0009026", "entIri": "http://purl.obolibrary.org/obo/MONDO_0009026", "entType": "Disease", "ldhId": "135642038", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642038", "rev": "_kZ7wamO---" }, { "entId": "MONDO:0015280", "entIri": "http://purl.obolibrary.org/obo/MONDO_0015280", "entType": "Disease", "ldhId": "135642033", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642033", "rev": "_inf5BWq--n" }, { "entId": "MONDO:0021060", "entIri": "http://purl.obolibrary.org/obo/MONDO_0021060", "entType": "Disease", "ldhId": "135642032", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642032", "rev": "_inf5Bji--C" }, { "entId": "MONDO:0007893", "entIri": "http://purl.obolibrary.org/obo/MONDO_0007893", "entType": "Disease", "ldhId": "135642030", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642030", "rev": "_kZ7wL1e---" }, { "entId": "MONDO:0018997", "entIri": "http://purl.obolibrary.org/obo/MONDO_0018997", "entType": "Disease", "ldhId": "135642028", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642028", "rev": "_inf5BdS--F" }, { "entId": "MONDO:0021060", "entIri": "http://purl.obolibrary.org/obo/MONDO_0021060", "entType": "Disease", "ldhId": "135642035", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642035", "rev": "_inf5Bji--E" }, { "entId": "MONDO:0018997", "entIri": "http://purl.obolibrary.org/obo/MONDO_0018997", "entType": "Disease", "ldhId": "135642031", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642031", "rev": "_inf5BdS--G" }, { "entId": "MONDO:0021060", "entIri": "http://purl.obolibrary.org/obo/MONDO_0021060", "entType": "Disease", "ldhId": "135642029", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642029", "rev": "_inf5BjS--h" }, { "entId": "MONDO:0021060", "entIri": "http://purl.obolibrary.org/obo/MONDO_0021060", "entType": "Disease", "ldhId": "135642040", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642040", "rev": "_inf5Bjm--d" }, { "entId": "MONDO:0021060", "entIri": "http://purl.obolibrary.org/obo/MONDO_0021060", "entType": "Disease", "ldhId": "135642037", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642037", "rev": "_inf5Bji--3" }, { "entId": "MONDO:0015280", "entIri": "http://purl.obolibrary.org/obo/MONDO_0015280", "entType": "Disease", "ldhId": "135642036", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642036", "rev": "_inf5BWm--h" }, { "entId": "MONDO:0018997", "entIri": "http://purl.obolibrary.org/obo/MONDO_0018997", "entType": "Disease", "ldhId": "135642026", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642026", "rev": "_kZ7yg5y---" }, { "entId": "MONDO:0021060", "entIri": "http://purl.obolibrary.org/obo/MONDO_0021060", "entType": "Disease", "ldhId": "135642025", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642025", "rev": "_inf5Bji--A" }, { "entId": "MONDO:0018997", "entIri": "http://purl.obolibrary.org/obo/MONDO_0018997", "entType": "Disease", "ldhId": "135642024", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642024", "rev": "_iyse0Zq---" }, { "entId": "MONDO:0021060", "entIri": "http://purl.obolibrary.org/obo/MONDO_0021060", "entType": "Disease", "ldhId": "135642023", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642023", "rev": "_inf5Bji--0" }, { "entId": "MONDO:0021060", "entIri": "http://purl.obolibrary.org/obo/MONDO_0021060", "entType": "Disease", "ldhId": "135642020", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642020", "rev": "_inf5Bjm--c" }, { "entId": "MONDO:0021060", "entIri": "http://purl.obolibrary.org/obo/MONDO_0021060", "entType": "Disease", "ldhId": "135642042", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642042", "rev": "_iysfmna---" }, { "entId": "MONDO:0018997", "entIri": "http://purl.obolibrary.org/obo/MONDO_0018997", "entType": "Disease", "ldhId": "135642034", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642034", "rev": "_inf5BdS--_" }, { "entId": "MONDO:0021060", "entIri": "http://purl.obolibrary.org/obo/MONDO_0021060", "entType": "Disease", "ldhId": "135642027", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642027", "rev": "_inf5Bji--1" }, { "entId": "MONDO:0021060", "entIri": "http://purl.obolibrary.org/obo/MONDO_0021060", "entType": "Disease", "ldhId": "135642022", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642022", "rev": "_kZ7y8AC---" } ], "EvidenceCategory": [ { "entType": "EvidenceCategory", "ldhId": "135642487", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642487", "rev": "_inf5Asi--_" }, { "entType": "EvidenceCategory", "ldhId": "135642485", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642485", "rev": "_inf5Asi---" }, { "entType": "EvidenceCategory", "ldhId": "135642490", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642490", "rev": "_inf5Asm--r" }, { "entType": "EvidenceCategory", "ldhId": "135642488", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642488", "rev": "_inf5Asi--A" }, { "entType": "EvidenceCategory", "ldhId": "135642486", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642486", "rev": "_inf5AsS--_" }, { "entType": "EvidenceCategory", "ldhId": "135642491", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642491", "rev": "_inf5Asi--B" }, { "entType": "EvidenceCategory", "ldhId": "135642489", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642489", "rev": "_inf5Asm--o" }, { "entType": "EvidenceCategory", "ldhId": "135642492", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642492", "rev": "_inf5Asm--t" } ], "Gene": [ { "entId": "MAP2K2", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6842", "entType": "Gene", "ldhId": "135641821", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/135641821", "rev": "_inf5A8---C" }, { "entId": "SOS1", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11187", "entType": "Gene", "ldhId": "135641814", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/135641814", "rev": "_inf5A8---G" }, { "entId": "HRAS", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5173", "entType": "Gene", "ldhId": "135641819", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/135641819", "rev": "_inf5A8---_" }, { "entId": "KRAS", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6407", "entType": "Gene", "ldhId": "135641817", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/135641817", "rev": "_inf5A8---A" }, { "entId": "PTPN11", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9644", "entType": "Gene", "ldhId": "135641816", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/135641816", "rev": "_inf5A8---F" }, { "entId": "RIT1", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10023", "entType": "Gene", "ldhId": "135641820", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/135641820", "rev": "_inf5A8S--H" }, { "entId": "RAF1", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9829", "entType": "Gene", "ldhId": "135641813", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/135641813", "rev": "_inf5A8S--G" }, { "entId": "NRAS", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7989", "entType": "Gene", "ldhId": "135641812", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/135641812", "rev": "_inf5A8---D" }, { "entId": "SHOC2", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15454", "entType": "Gene", "ldhId": "135641811", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/135641811", "rev": "_inf5A8S--J" }, { "entId": "BRAF", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1097", "entType": "Gene", "ldhId": "135641822", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/135641822", "rev": "_inf5A8S---" }, { "entId": "MAP2K1", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6840", "entType": "Gene", "ldhId": "135641818", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/135641818", "rev": "_inf5A8---B" }, { "entId": "SOS2", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11188", "entType": "Gene", "ldhId": "135641815", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/135641815", "rev": "_inf5A8---F" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "135640573", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/135640573", "rev": "_inf5BHS--G" } ], "SequenceVariantInterpretation": [ { "entId": "GN048", "entType": "SequenceVariantInterpretation", "ldhId": "643243118", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243118", "rev": "_i2njpu---F" }, { "entId": "GN042", "entType": "SequenceVariantInterpretation", "ldhId": "643243112", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243112", "rev": "_lFuu0VG---" }, { "entId": "GN040", "entType": "SequenceVariantInterpretation", "ldhId": "643243110", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243110", "rev": "_i2nM8u----" }, { "entId": "GN047", "entType": "SequenceVariantInterpretation", "ldhId": "643243117", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243117", "rev": "_i2nthBm--I" }, { "entId": "GN038", "entType": "SequenceVariantInterpretation", "ldhId": "643243108", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243108", "rev": "_i2lVnNC---" }, { "entId": "GN043", "entType": "SequenceVariantInterpretation", "ldhId": "643243113", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243113", "rev": "_i2nl8by--A" }, { "entId": "GN041", "entType": "SequenceVariantInterpretation", "ldhId": "643243111", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243111", "rev": "_lFutT-m---" }, { "entId": "GN049", "entType": "SequenceVariantInterpretation", "ldhId": "643243119", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243119", "rev": "_i2nUog----" }, { "entId": "GN046", "entType": "SequenceVariantInterpretation", "ldhId": "643243116", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243116", "rev": "_i2nsGyi---" }, { "entId": "GN045", "entType": "SequenceVariantInterpretation", "ldhId": "643243115", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243115", "rev": "_i2nq6Xq---" }, { "entId": "GN044", "entType": "SequenceVariantInterpretation", "ldhId": "643243114", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243114", "rev": "_i2noq9m---" }, { "entId": "GN039", "entType": "SequenceVariantInterpretation", "ldhId": "643243109", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243109", "rev": "_k6Ix4Oy---" } ] }, "ldFor": { "Organization": [ { "entId": "50021", "entIri": "http://clinicalgenome.org/affiliation/50021", "entType": "Organization", "ldhId": "135637642", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/135637642", "rev": "_inf5B_G--D" } ], "SequenceVariantInterpretation": [ { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" } ] }, "ldhId": "135637576", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637576", "modified": "2024-08-03T01:28:21.375Z", "modifier": "cspecAdministrator", "rev": "_inf5BXW--Z" }, { "entContent": { "approvedOn": "2022-03-30T00:00:00.000Z", "description": "", "hideFlag": false, "legacy": true, "legacyReplaced": false, "namespace": "GN005", "releaseNotes": "\n(1) Removal of PM2 at moderate strength and use of the PM2 cutoff at supporting strength.\n(2) Functional assay strength and evidence using the criteria from Brnich et al., including downgrading PS3 to supporting for all specified COCH assays.\n(3) Removal of PP4 and PM1 specifications of genes that are outside of the HL VCEP defined scope", "shortTitle": "Hearing Loss Variant Curation Expert Panel", "specificationSource": "https://clinicalgenome.org/site/assets/files/7814/clingen_hl_acmg_specifications_cdh23_coch_gjb2_kcnq4_myo6_myo7a_slc26a4_tecta_ush2a_v2.pdf", "states": [ { "current": true, "event": { "name": "cspec-released", "prevState": "Approved For Release", "timeStamp": "2022-03-30T00:00:00.000Z" }, "name": "Released" } ], "tagNameSpaces": [ "005" ], "title": "ClinGen Hearing Loss Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for CDH23, COCH, GJB2,\nKCNQ4, MYO6, MYO7A, SLC26A4, TECTA and USH2A Version 2", "version": "2.0.0" }, "entId": "GN005", "entType": "SequenceVariantInterpretation", "ld": { "Assertion": [ { "entType": "Assertion", "ldhId": "135642231", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642231", "rev": "_inf5Ale--_" }, { "entType": "Assertion", "ldhId": "135642237", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642237", "rev": "_inf5Alm--B" }, { "entType": "Assertion", "ldhId": "135642234", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642234", "rev": "_inf5Ale--A" }, { "entType": "Assertion", "ldhId": "135642236", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642236", "rev": "_inf5Alm--A" }, { "entType": "Assertion", "ldhId": "135642233", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642233", "rev": "_inf5Alm--_" }, { "entType": "Assertion", "ldhId": "135642232", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642232", "rev": "_inf5Ale---" }, { "entType": "Assertion", "ldhId": "135642235", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642235", "rev": "_inf5Ale--_" } ], "CriteriaCode": [ { "entType": "CriteriaCode", "ldhId": "638432875", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/638432875", "rev": "_inf5Ap2--a" }, { "entType": "CriteriaCode", "ldhId": "135638907", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638907", "rev": "_inf5Ap6--Z" }, { "entType": "CriteriaCode", "ldhId": "135638906", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638906", "rev": "_inf5Ap6--i" }, { "entType": "CriteriaCode", "ldhId": "135638905", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638905", "rev": "_inf5Ap6--f" }, { "entType": "CriteriaCode", "ldhId": "135638904", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638904", "rev": "_inf5Ap6--i" }, { "entType": "CriteriaCode", "ldhId": "135638902", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638902", "rev": "_inf5Ap6--e" }, { "entType": "CriteriaCode", "ldhId": "135638893", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638893", "rev": "_inf5Ap2--Y" }, { "entType": "CriteriaCode", "ldhId": "135638892", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638892", "rev": "_inf5Aq----" }, { "entType": "CriteriaCode", "ldhId": "135638890", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638890", "rev": "_inf5Ap6--c" }, { "entType": "CriteriaCode", "ldhId": "135638888", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638888", "rev": "_inf5Apm--A" }, { "entType": "CriteriaCode", "ldhId": "135638886", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638886", "rev": "_inf5Apm---" }, { "entType": "CriteriaCode", "ldhId": "135638883", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638883", "rev": "_inf5Ap6--a" }, { "entType": "CriteriaCode", "ldhId": "135638903", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638903", "rev": "_inf5Apu--N" }, { "entType": "CriteriaCode", "ldhId": "135638900", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638900", "rev": "_inf5Ap6--h" }, { "entType": "CriteriaCode", "ldhId": "135638898", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638898", "rev": "_inf5Ap2--Z" }, { "entType": "CriteriaCode", "ldhId": "638432874", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/638432874", "rev": "_inf5Ap2--e" }, { "entType": "CriteriaCode", "ldhId": "135638901", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638901", "rev": "_inf5Ap2--b" }, { "entType": "CriteriaCode", "ldhId": "135638896", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638896", "rev": "_inf5Ap2--d" }, { "entType": "CriteriaCode", "ldhId": "135638895", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638895", "rev": "_inf5Ap6--Y" }, { "entType": "CriteriaCode", "ldhId": "135638894", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638894", "rev": "_inf5Ap2--c" }, { "entType": "CriteriaCode", "ldhId": "135638889", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638889", "rev": "_inf5Apm--_" }, { "entType": "CriteriaCode", "ldhId": "135638885", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638885", "rev": "_inf5Api--s" }, { "entType": "CriteriaCode", "ldhId": "135638882", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638882", "rev": "_inf5Ap6--g" }, { "entType": "CriteriaCode", "ldhId": "135638899", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638899", "rev": "_inf5Ap2--X" }, { "entType": "CriteriaCode", "ldhId": "135638897", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638897", "rev": "_inf5Ap6--d" }, { "entType": "CriteriaCode", "ldhId": "135638891", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638891", "rev": "_inf5Api--r" }, { "entType": "CriteriaCode", "ldhId": "135638887", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638887", "rev": "_inf5Ap6--b" }, { "entType": "CriteriaCode", "ldhId": "135638884", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638884", "rev": "_inf5Api--t" } ], "Disease": [ { "entId": "MONDO:0010984", "entIri": "http://purl.obolibrary.org/obo/MONDO_0010984", "entType": "Disease", "ldhId": "135642110", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642110", "rev": "_kZ7w0Uy---" }, { "entId": "MONDO:0019501", "entIri": "http://purl.obolibrary.org/obo/MONDO_0019501", "entType": "Disease", "ldhId": "135642102", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642102", "rev": "_kZ7yoOm---" }, { "entId": "MONDO:0005365", "entIri": "http://purl.obolibrary.org/obo/MONDO_0005365", "entType": "Disease", "ldhId": "135642096", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642096", "rev": "_kZ7vtrK---" }, { "entId": "MONDO:0019497", "entIri": "http://purl.obolibrary.org/obo/MONDO_0019497", "entType": "Disease", "ldhId": "135642106", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642106", "rev": "_inf5BdK--Z" }, { "entId": "MONDO:0019497", "entIri": "http://purl.obolibrary.org/obo/MONDO_0019497", "entType": "Disease", "ldhId": "135642104", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642104", "rev": "_inf5BdK--Y" }, { "entId": "MONDO:0016484", "entIri": "http://purl.obolibrary.org/obo/MONDO_0016484", "entType": "Disease", "ldhId": "135642103", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642103", "rev": "_kZ7x9zi---" }, { "entId": "MONDO:0019497", "entIri": "http://purl.obolibrary.org/obo/MONDO_0019497", "entType": "Disease", "ldhId": "135642095", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642095", "rev": "_inf5BdK--X" }, { "entId": "MONDO:0019497", "entIri": "http://purl.obolibrary.org/obo/MONDO_0019497", "entType": "Disease", "ldhId": "135642108", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642108", "rev": "_inf5Bde--Y" }, { "entId": "MONDO:0019497", "entIri": "http://purl.obolibrary.org/obo/MONDO_0019497", "entType": "Disease", "ldhId": "135642105", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642105", "rev": "_inf5Bda--Y" }, { "entId": "MONDO:0010169", "entIri": "http://purl.obolibrary.org/obo/MONDO_0010169", "entType": "Disease", "ldhId": "135642101", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642101", "rev": "_kZ7wpbC---" }, { "entId": "MONDO:0010134", "entIri": "http://purl.obolibrary.org/obo/MONDO_0010134", "entType": "Disease", "ldhId": "135642098", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642098", "rev": "_kZ7wpT2---" }, { "entId": "MONDO:0020678", "entIri": "http://purl.obolibrary.org/obo/MONDO_0020678", "entType": "Disease", "ldhId": "135642107", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642107", "rev": "_kZ7y4_a---" }, { "entId": "MONDO:0019497", "entIri": "http://purl.obolibrary.org/obo/MONDO_0019497", "entType": "Disease", "ldhId": "135642097", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642097", "rev": "_inf5Bdi--_" }, { "entId": "MONDO:0019501", "entIri": "http://purl.obolibrary.org/obo/MONDO_0019501", "entType": "Disease", "ldhId": "135642109", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642109", "rev": "_inf5BdK--b" }, { "entId": "MONDO:0019501", "entIri": "http://purl.obolibrary.org/obo/MONDO_0019501", "entType": "Disease", "ldhId": "135642100", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642100", "rev": "_inf5BdO--P" }, { "entId": "MONDO:0019497", "entIri": "http://purl.obolibrary.org/obo/MONDO_0019497", "entType": "Disease", "ldhId": "135642099", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642099", "rev": "_kZ7yoNe---" } ], "EvidenceCategory": [ { "entType": "EvidenceCategory", "ldhId": "135642490", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642490", "rev": "_inf5Asm--r" }, { "entType": "EvidenceCategory", "ldhId": "135642489", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642489", "rev": "_inf5Asm--o" }, { "entType": "EvidenceCategory", "ldhId": "135642485", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642485", "rev": "_inf5Asi---" }, { "entType": "EvidenceCategory", "ldhId": "135642492", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642492", "rev": "_inf5Asm--t" }, { "entType": "EvidenceCategory", "ldhId": "135642488", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642488", "rev": "_inf5Asi--A" }, { "entType": "EvidenceCategory", "ldhId": "135642487", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642487", "rev": "_inf5Asi--_" }, { "entType": "EvidenceCategory", "ldhId": "135642486", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642486", "rev": "_inf5AsS--_" }, { "entType": "EvidenceCategory", "ldhId": "135642491", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642491", "rev": "_inf5Asi--B" } ], "Gene": [ { "entId": "MYO6", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7605", "entType": "Gene", "ldhId": "135641855", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/135641855", "rev": "_inf5A8---D" }, { "entId": "SLC26A4", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8818", "entType": "Gene", "ldhId": "135641852", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/135641852", "rev": "_inf5A8S--A" }, { "entId": "MYO7A", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7606", "entType": "Gene", "ldhId": "135641853", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/135641853", "rev": "_inf5A8---C" }, { "entId": "CDH23", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13733", "entType": "Gene", "ldhId": "135641858", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/135641858", "rev": "_inf5A8S--_" }, { "entId": "COCH", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2180", "entType": "Gene", "ldhId": "135641857", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/135641857", "rev": "_inf5A8---A" }, { "entId": "TECTA", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11720", "entType": "Gene", "ldhId": "135641850", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/135641850", "rev": "_inf5A8---G" }, { "entId": "KCNQ4", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6298", "entType": "Gene", "ldhId": "135641851", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/135641851", "rev": "_inf5A8---C" }, { "entId": "GJB2", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4284", "entType": "Gene", "ldhId": "135641856", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/135641856", "rev": "_inf5A8S--C" }, { "entId": "USH2A", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12601", "entType": "Gene", "ldhId": "135641854", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/135641854", "rev": "_inf5A8---H" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "135640633", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/135640633", "rev": "_inf5BHW--M" } ], "SequenceVariantInterpretation": [ { "entId": "GN057", "entType": "SequenceVariantInterpretation", "ldhId": "643243127", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243127", "rev": "_inf5BXK---" }, { "entId": "GN050", "entType": "SequenceVariantInterpretation", "ldhId": "643243120", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243120", "rev": "_inf5BXe--_" }, { "entId": "GN053", "entType": "SequenceVariantInterpretation", "ldhId": "643243123", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243123", "rev": "_inf5BXe--A" }, { "entId": "GN055", "entType": "SequenceVariantInterpretation", "ldhId": "643243125", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243125", "rev": "_inf5BXe--C" }, { "entId": "GN052", "entType": "SequenceVariantInterpretation", "ldhId": "643243122", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243122", "rev": "_inf5BXW--A" }, { "entId": "GN058", "entType": "SequenceVariantInterpretation", "ldhId": "643243128", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243128", "rev": "_inf5BXK--A" }, { "entId": "GN056", "entType": "SequenceVariantInterpretation", "ldhId": "643243126", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243126", "rev": "_inf5BXi--O" }, { "entId": "GN054", "entType": "SequenceVariantInterpretation", "ldhId": "643243124", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243124", "rev": "_inf5BXe--B" }, { "entId": "GN051", "entType": "SequenceVariantInterpretation", "ldhId": "643243121", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243121", "rev": "_inf5BXW---" } ] }, "ldFor": { "Organization": [ { "entId": "50007", "entIri": "http://clinicalgenome.org/affiliation/50007", "entType": "Organization", "ldhId": "135637631", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/135637631", "rev": "_inf5B_G--V" } ], "SequenceVariantInterpretation": [ { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" } ] }, "ldhId": "135637577", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637577", "modified": "2023-09-29T15:16:45.390Z", "modifier": "cspecAdministrator", "rev": "_inf5BXe--M" }, { "entContent": { "approvedOn": "2024-07-16T15:03:44.780Z", "description": "ACMG variant classification (PAH) version 2.0\n ", "namespace": "GN006", "notes": "", "references": [ { "source": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/30311390" } ], "releaseNotes": "4/19/24: Please see response to SVI comments in the Word document. All suggestions are addressed; specifically, changes to PM1 and PS3. \n\nVersion 2 has many changes and updates. See attached Word document for specifics. response to SVI comments are in PM1 and PP3, with attachments for PVS1 and PS3.", "releasedUnderRevision": true, "shortTitle": "ACMG variant classification (PAH)", "specificationSource": "", "states": [ { "current": false, "event": { "name": "cspec-released", "prevState": "Approved For Release", "timeStamp": "2024-07-16T15:03:44.780Z" }, "name": "Released" }, { "current": false, "event": { "name": "cspec-reopened", "prevState": "Released", "timeStamp": "2025-01-30T16:45:56.243Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "name": "pilot-rules-submitted", "prevState": "Pilot Rules In Prep", "timeStamp": "2025-04-01T17:49:10.973Z" }, "name": "Pilot Rules Submitted" }, { "current": false, "event": { "name": "pilot-rules-reviewed", "prevState": "Pilot Rules Submitted", "timeStamp": "2025-04-01T17:16:33.839Z" }, "name": "Pilot Rules In Prep" }, { "current": true, "event": { "name": "pilot-rules-approved", "prevState": "Pilot Rules Submitted", "timeStamp": "2025-04-01T17:55:57.261Z" }, "name": "Approved For Release" } ], "tagNameSpaces": [ "006" ], "title": "ClinGen Phenylketonuria Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for PAH Version 2.0.0", "version": "2.0.0", "versioned": true }, "entId": "GN006", "entType": "SequenceVariantInterpretation", "ld": { "Assertion": [ { "entType": "Assertion", "ldhId": "135642237", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642237", "rev": "_inf5Alm--B" }, { "entType": "Assertion", "ldhId": "135642235", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642235", "rev": "_inf5Ale--_" }, { "entType": "Assertion", "ldhId": "135642233", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642233", "rev": "_inf5Alm--_" }, { "entType": "Assertion", "ldhId": "135642232", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642232", "rev": "_inf5Ale---" }, { "entType": "Assertion", "ldhId": "135642234", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642234", "rev": "_inf5Ale--A" }, { "entType": "Assertion", "ldhId": "135642231", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642231", "rev": "_inf5Ale--_" }, { "entType": "Assertion", "ldhId": "135642236", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642236", "rev": "_inf5Alm--A" } ], "CriteriaCode": [ { "entType": "CriteriaCode", "ldhId": "638432905", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/638432905", "rev": "_inf5Ata--2" }, { "entType": "CriteriaCode", "ldhId": "135638988", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638988", "rev": "_inf5Ati-_F" }, { "entType": "CriteriaCode", "ldhId": "135638983", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638983", "rev": "_inf5Atq--Y" }, { "entType": "CriteriaCode", "ldhId": "135638978", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638978", "rev": "_inf5Ati-_D" }, { "entType": "CriteriaCode", "ldhId": "135638969", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638969", "rev": "_inf5Ati--W" }, { "entType": "CriteriaCode", "ldhId": "135638967", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638967", "rev": "_inf5Ata--5" }, { "entType": "CriteriaCode", "ldhId": "135638963", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638963", "rev": "_inf5Atm--X" }, { "entType": "CriteriaCode", "ldhId": "135638980", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638980", "rev": "_inf5Ati--N" }, { "entType": "CriteriaCode", "ldhId": "135638979", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638979", "rev": "_inf5Atq--b" }, { "entType": "CriteriaCode", "ldhId": "135638976", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638976", "rev": "_inf5Ati--U" }, { "entType": "CriteriaCode", "ldhId": "135638974", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638974", "rev": "_inf5Atm--V" }, { "entType": "CriteriaCode", "ldhId": "135638973", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638973", "rev": "_inf5Atm--W" }, { "entType": "CriteriaCode", "ldhId": "638432904", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/638432904", "rev": "_inf5Atm--Z" }, { "entType": "CriteriaCode", "ldhId": "135638987", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638987", "rev": "_inf5Ati--Q" }, { "entType": "CriteriaCode", "ldhId": "135638984", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638984", "rev": "_inf5Atm--a" }, { "entType": "CriteriaCode", "ldhId": "135638982", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638982", "rev": "_inf5Ati--S" }, { "entType": "CriteriaCode", "ldhId": "135638975", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638975", "rev": "_inf5Atq--a" }, { "entType": "CriteriaCode", "ldhId": "135638966", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638966", "rev": "_inf5Ati--P" }, { "entType": "CriteriaCode", "ldhId": "135638972", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638972", "rev": "_inf5Ati-_B" }, { "entType": "CriteriaCode", "ldhId": "135638971", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638971", "rev": "_inf5Ati-_C" }, { "entType": "CriteriaCode", "ldhId": "135638970", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638970", "rev": "_inf5Ati-_E" }, { "entType": "CriteriaCode", "ldhId": "135638968", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638968", "rev": "_inf5Ati--X" }, { "entType": "CriteriaCode", "ldhId": "135638965", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638965", "rev": "_inf5Ata--8" }, { "entType": "CriteriaCode", "ldhId": "135638986", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638986", "rev": "_inf5Atm--Y" }, { "entType": "CriteriaCode", "ldhId": "135638985", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638985", "rev": "_inf5Ata--0" }, { "entType": "CriteriaCode", "ldhId": "135638981", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638981", "rev": "_inf5Ati--Z" }, { "entType": "CriteriaCode", "ldhId": "135638977", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638977", "rev": "_inf5Atq--Z" }, { "entType": "CriteriaCode", "ldhId": "135638964", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638964", "rev": "_inf5Ata--6" } ], "Disease": [ { "entId": "MONDO:0009861", "entIri": "http://purl.obolibrary.org/obo/MONDO_0009861", "entType": "Disease", "ldhId": "135642146", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642146", "rev": "_kZ7wlDK--A" } ], "EvidenceCategory": [ { "entType": "EvidenceCategory", "ldhId": "135642491", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642491", "rev": "_inf5Asi--B" }, { "entType": "EvidenceCategory", "ldhId": "135642490", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642490", "rev": "_inf5Asm--r" }, { "entType": "EvidenceCategory", "ldhId": "135642489", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642489", "rev": "_inf5Asm--o" }, { "entType": "EvidenceCategory", "ldhId": "135642488", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642488", "rev": "_inf5Asi--A" }, { "entType": "EvidenceCategory", "ldhId": "135642492", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642492", "rev": "_inf5Asm--t" }, { "entType": "EvidenceCategory", "ldhId": "135642487", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642487", "rev": "_inf5Asi--_" }, { "entType": "EvidenceCategory", "ldhId": "135642486", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642486", "rev": "_inf5AsS--_" }, { "entType": "EvidenceCategory", "ldhId": "135642485", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642485", "rev": "_inf5Asi---" } ], "Gene": [ { "entId": "PAH", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8582", "entType": "Gene", "ldhId": "135641880", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/135641880", "rev": "_inf5A8S---" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "135640693", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/135640693", "rev": "_inf5BHe--e" } ] }, "ldFor": { "Organization": [ { "entId": "50015", "entIri": "http://clinicalgenome.org/affiliation/50015", "entType": "Organization", "ldhId": "135637639", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/135637639", "rev": "_inf5B_G--A" } ], "SequenceVariantInterpretation": [ { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" } ] }, "ldhId": "135637578", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637578", "modified": "2025-04-01T17:55:57.548Z", "modifier": "sharriso", "rev": "_jdH83dW---" }, { "entContent": { "approvedOn": "2022-03-29T00:00:00.000Z", "description": "This version specified for the following genes: CDH1", "namespace": "GN007", "releaseNotes": "\n(1) Specification of PM5_Supporting to nonsense and frameshift variants that are predicted/proved to undergo nonsense-mediated decay (NMD) or located upstream of the last known pathogenic truncating variant [c.2506G>T (p.Glu836Ter)].\n(2) Column correction for PM2_Supporting from Moderate column to Supporting column.", "shortTitle": "CDH1 Specification", "specificationSource": "https://www.clinicalgenome.org/site/assets/files/7580/clingen_cdh1_acmg_specifications_v3_1.pdf", "states": [ { "current": true, "event": { "name": "cspec-released", "prevState": "Approved For Release", "timeStamp": "2022-03-29T00:00:00.000Z" }, "name": "Released" } ], "tagNameSpaces": [ "007" ], "title": "ClinGen CDH1 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 3.1", "version": "3.1.0" }, "entId": "GN007", "entType": "SequenceVariantInterpretation", "ld": { "Assertion": [ { "entType": "Assertion", "ldhId": "135642232", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642232", "rev": "_inf5Ale---" }, { "entType": "Assertion", "ldhId": "135642236", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642236", "rev": "_inf5Alm--A" }, { "entType": "Assertion", "ldhId": "135642237", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642237", "rev": "_inf5Alm--B" }, { "entType": "Assertion", "ldhId": "135642231", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642231", "rev": "_inf5Ale--_" }, { "entType": "Assertion", "ldhId": "135642235", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642235", "rev": "_inf5Ale--_" }, { "entType": "Assertion", "ldhId": "135642234", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642234", "rev": "_inf5Ale--A" }, { "entType": "Assertion", "ldhId": "135642233", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642233", "rev": "_inf5Alm--_" } ], "CriteriaCode": [ { "entType": "CriteriaCode", "ldhId": "135639066", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639066", "rev": "_inf5Apu--a" }, { "entType": "CriteriaCode", "ldhId": "135639065", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639065", "rev": "_inf5Apa--S" }, { "entType": "CriteriaCode", "ldhId": "135639061", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639061", "rev": "_inf5Apy--e" }, { "entType": "CriteriaCode", "ldhId": "135639059", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639059", "rev": "_inf5Apm--K" }, { "entType": "CriteriaCode", "ldhId": "135639056", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639056", "rev": "_inf5Apy--e" }, { "entType": "CriteriaCode", "ldhId": "135639055", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639055", "rev": "_inf5Apm--J" }, { "entType": "CriteriaCode", "ldhId": "135639049", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639049", "rev": "_inf5Ap6--Q" }, { "entType": "CriteriaCode", "ldhId": "135639047", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639047", "rev": "_inf5Apa--Q" }, { "entType": "CriteriaCode", "ldhId": "135639046", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639046", "rev": "_inf5Apy--h" }, { "entType": "CriteriaCode", "ldhId": "135639045", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639045", "rev": "_inf5Ape--U" }, { "entType": "CriteriaCode", "ldhId": "135639044", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639044", "rev": "_inf5Apm--L" }, { "entType": "CriteriaCode", "ldhId": "638432935", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/638432935", "rev": "_inf5Apy--J" }, { "entType": "CriteriaCode", "ldhId": "135639069", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639069", "rev": "_inf5Apa--P" }, { "entType": "CriteriaCode", "ldhId": "135639064", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639064", "rev": "_inf5Ap2--M" }, { "entType": "CriteriaCode", "ldhId": "135639062", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639062", "rev": "_inf5Apy--j" }, { "entType": "CriteriaCode", "ldhId": "135639053", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639053", "rev": "_inf5Apy--d" }, { "entType": "CriteriaCode", "ldhId": "135639051", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639051", "rev": "_inf5Apa--T" }, { "entType": "CriteriaCode", "ldhId": "135639048", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639048", "rev": "_inf5Apy--i" }, { "entType": "CriteriaCode", "ldhId": "638432934", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/638432934", "rev": "_inf5Ape--L" }, { "entType": "CriteriaCode", "ldhId": "135639067", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639067", "rev": "_inf5Ape--V" }, { "entType": "CriteriaCode", "ldhId": "135639063", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639063", "rev": "_inf5Apy--g" }, { "entType": "CriteriaCode", "ldhId": "135639060", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639060", "rev": "_inf5Apy--f" }, { "entType": "CriteriaCode", "ldhId": "135639058", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639058", "rev": "_inf5Apu--Z" }, { "entType": "CriteriaCode", "ldhId": "135639052", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639052", "rev": "_inf5Apa--R" }, { "entType": "CriteriaCode", "ldhId": "135639068", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639068", "rev": "_inf5Ape--W" }, { "entType": "CriteriaCode", "ldhId": "135639057", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639057", "rev": "_inf5Apu--R" }, { "entType": "CriteriaCode", "ldhId": "135639054", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639054", "rev": "_inf5Apu--Y" }, { "entType": "CriteriaCode", "ldhId": "135639050", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639050", "rev": "_inf5Apy--U" } ], "Disease": [ { "entId": "MONDO:0007648", "entIri": "http://purl.obolibrary.org/obo/MONDO_0007648", "entType": "Disease", "ldhId": "135642152", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642152", "rev": "_kZ7wJPi---" } ], "EvidenceCategory": [ { "entType": "EvidenceCategory", "ldhId": "135642486", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642486", "rev": "_inf5AsS--_" }, { "entType": "EvidenceCategory", "ldhId": "135642491", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642491", "rev": "_inf5Asi--B" }, { "entType": "EvidenceCategory", "ldhId": "135642492", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642492", "rev": "_inf5Asm--t" }, { "entType": "EvidenceCategory", "ldhId": "135642489", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642489", "rev": "_inf5Asm--o" }, { "entType": "EvidenceCategory", "ldhId": "135642490", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642490", "rev": "_inf5Asm--r" }, { "entType": "EvidenceCategory", "ldhId": "135642488", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642488", "rev": "_inf5Asi--A" }, { "entType": "EvidenceCategory", "ldhId": "135642485", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642485", "rev": "_inf5Asi---" }, { "entType": "EvidenceCategory", "ldhId": "135642487", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642487", "rev": "_inf5Asi--_" } ], "Gene": [ { "entId": "CDH1", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1748", "entType": "Gene", "ldhId": "135641886", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/135641886", "rev": "_inf5A8---_" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "135640753", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/135640753", "rev": "_inf5BHa--P" } ] }, "ldFor": { "Organization": [ { "entId": "50014", "entIri": "http://clinicalgenome.org/affiliation/50014", "entType": "Organization", "ldhId": "135637638", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/135637638", "rev": "_jzSLSPu---" } ], "SequenceVariantInterpretation": [ { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" } ] }, "ldhId": "135637579", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637579", "modified": "2023-09-29T15:16:45.654Z", "modifier": "cspecAdministrator", "rev": "_inf5BXW--F" }, { "entContent": { "approvedOn": "2026-02-13T22:45:40.259Z", "description": "MM-VCEP Specifications for RUNX1 Variant Curation", "namespace": "GN008", "releaseNotes": "(1) New gnomAD MAF threshold for PM2\\_supporting ≤ 0.00005 to account for larger population in gnomAD v4. \n(2) Upgraded strength of PM1 to PM1\\_strong when used for missense variants at the following residues: R107, K110, A134, R162, R166, S167, R169, G170, K194, T196, D198, R201, R204. Added a caveat to not use PM5/PS1 at any level if PM1 was applied. \n(3) Upgraded strength of PM4 to PM4\\_strong when used for missense variants at the following residues: R107, K110, A134, R162, R166, S167, R169, G170, K194, T196, D198, R201, R204. Added an allowance to use PM4 for stop-loss variants. \n(4) Established PVS1\\_variable (RNA) and BP7\\_variable (RNA) to be used when RNA data is available for splicing variants. PS1 is now able to be used for splicing variants with the same predicted splicing event as a known pathogenic/likely pathogenic splicing variant. \n(5) Conservation data is no longer considered when applying BP7. BP7 is limited to intronic variants, and synonymous variants which don’t occur in the last 3 nucleotides preceding a canonical donor splice site or the first nucleotide following a canonical acceptor splice site.\n\n(6) Revised PM5 to account for Grantham scores when evaluating missense variants.", "shortTitle": "Myeloid Malignancy Specification", "specificationSource": "", "states": [ { "current": true, "event": { "modifiedBy": "tildacarlelycke", "name": "cspec-released", "prevState": "Approved For Release", "timeStamp": "2026-02-13T22:45:40.259Z" }, "name": "Released" }, { "current": false, "event": { "modifiedBy": "tildacarlelycke", "name": "cspec-reopened", "prevState": "Released", "timeStamp": "2025-12-18T20:36:57.818Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "tildacarlelycke", "name": "pilot-rules-submitted", "prevState": "Pilot Rules In Prep", "timeStamp": "2025-12-18T20:57:54.948Z" }, "name": "Pilot Rules Submitted" }, { "current": false, "event": { "modifiedBy": "sharriso", "name": "pilot-rules-reviewed", "prevState": "Pilot Rules Submitted", "timeStamp": "2025-08-05T21:09:01.644Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "sharriso", "name": "pilot-rules-approved", "prevState": "Pilot Rules Submitted", "timeStamp": "2026-01-27T17:47:12.972Z" }, "name": "Approved For Release" } ], "tagNameSpaces": [ "008" ], "title": "ClinGen Myeloid Malignancy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for RUNX1 Version 3.1.0", "type": "Tavtigian et.al., 2020 - Bayesian adaptation of Richards et.al., 2015", "version": "3.1.0", "versioned": true }, "entId": "GN008", "entType": "SequenceVariantInterpretation", "ld": { "Assertion": [ { "entType": "Assertion", "ldhId": "135642237", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642237", "rev": "_inf5Alm--B" }, { "entType": "Assertion", "ldhId": "135642233", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642233", "rev": "_inf5Alm--_" }, { "entType": "Assertion", "ldhId": "135642236", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642236", "rev": "_inf5Alm--A" }, { "entType": "Assertion", "ldhId": "135642235", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642235", "rev": "_inf5Ale--_" }, { "entType": "Assertion", "ldhId": "135642231", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642231", "rev": "_inf5Ale--_" }, { "entType": "Assertion", "ldhId": "135642232", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642232", "rev": "_inf5Ale---" }, { "entType": "Assertion", "ldhId": "135642234", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642234", "rev": "_inf5Ale--A" } ], "CriteriaCode": [ { "entType": "CriteriaCode", "ldhId": "135639148", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639148", "rev": "_lDisZhm---" }, { "entType": "CriteriaCode", "ldhId": "135639142", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639142", "rev": "_lDisZu----" }, { "entType": "CriteriaCode", "ldhId": "135639140", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639140", "rev": "_lDisZqq---" }, { "entType": "CriteriaCode", "ldhId": "135639136", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639136", "rev": "_lDisZe2---" }, { "entType": "CriteriaCode", "ldhId": "135639135", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639135", "rev": "_lDisZvK---" }, { "entType": "CriteriaCode", "ldhId": "638432965", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/638432965", "rev": "_lDisZvq---" }, { "entType": "CriteriaCode", "ldhId": "135639150", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639150", "rev": "_lDisZd6---" }, { "entType": "CriteriaCode", "ldhId": "135639129", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639129", "rev": "_lDisZhC---" }, { "entType": "CriteriaCode", "ldhId": "135639128", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639128", "rev": "_lDisZuW---" }, { "entType": "CriteriaCode", "ldhId": "135639139", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639139", "rev": "_lDisZgC---" }, { "entType": "CriteriaCode", "ldhId": "135639137", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639137", "rev": "_lDisZxm---" }, { "entType": "CriteriaCode", "ldhId": "135639134", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639134", "rev": "_lDisZju---" }, { "entType": "CriteriaCode", "ldhId": "135639133", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639133", "rev": "_lDisZxC---" }, { "entType": "CriteriaCode", "ldhId": "135639130", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639130", "rev": "_lDisZsW---" }, { "entType": "CriteriaCode", "ldhId": "638432964", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/638432964", "rev": "_lDisZpa---" }, { "entType": "CriteriaCode", "ldhId": "135639147", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639147", "rev": "_lDisZlq---" }, { "entType": "CriteriaCode", "ldhId": "135639143", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639143", "rev": "_lDisZgi---" }, { "entType": "CriteriaCode", "ldhId": "135639141", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639141", "rev": "_lDisZnW---" }, { "entType": "CriteriaCode", "ldhId": "135639132", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639132", "rev": "_lDisZka---" }, { "entType": "CriteriaCode", "ldhId": "135639127", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639127", "rev": "_lDisZou---" }, { "entType": "CriteriaCode", "ldhId": "135639149", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639149", "rev": "_lDisZo----" }, { "entType": "CriteriaCode", "ldhId": "135639146", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639146", "rev": "_lDisZqG---" }, { "entType": "CriteriaCode", "ldhId": "135639145", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639145", "rev": "_lDisZiC---" }, { "entType": "CriteriaCode", "ldhId": "135639144", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639144", "rev": "_lDisZiq---" }, { "entType": "CriteriaCode", "ldhId": "135639138", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639138", "rev": "_lDisZma---" }, { "entType": "CriteriaCode", "ldhId": "135639131", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639131", "rev": "_lDisZwa---" }, { "entType": "CriteriaCode", "ldhId": "135639126", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639126", "rev": "_lDisZmC---" }, { "entType": "CriteriaCode", "ldhId": "135639125", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639125", "rev": "_lDisZtS---" } ], "Disease": [ { "entId": "MONDO:0011071", "entIri": "http://purl.obolibrary.org/obo/MONDO_0011071", "entType": "Disease", "ldhId": "135642158", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642158", "rev": "_kZ7w1pq---" } ], "EvidenceCategory": [ { "entType": "EvidenceCategory", "ldhId": "135642490", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642490", "rev": "_inf5Asm--r" }, { "entType": "EvidenceCategory", "ldhId": "135642485", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642485", "rev": "_inf5Asi---" }, { "entType": "EvidenceCategory", "ldhId": "135642491", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642491", "rev": "_inf5Asi--B" }, { "entType": "EvidenceCategory", "ldhId": "135642492", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642492", "rev": "_inf5Asm--t" }, { "entType": "EvidenceCategory", "ldhId": "135642488", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642488", "rev": "_inf5Asi--A" }, { "entType": "EvidenceCategory", "ldhId": "135642489", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642489", "rev": "_inf5Asm--o" }, { "entType": "EvidenceCategory", "ldhId": "135642487", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642487", "rev": "_inf5Asi--_" }, { "entType": "EvidenceCategory", "ldhId": "135642486", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642486", "rev": "_inf5AsS--_" } ], "Gene": [ { "entId": "RUNX1", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10471", "entType": "Gene", "ldhId": "135641893", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/135641893", "rev": "_inf5A8S--I" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "135640813", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/135640813", "rev": "_lDisZTu---" } ] }, "ldFor": { "Organization": [ { "entId": "50034", "entIri": "http://clinicalgenome.org/affiliation/50034", "entType": "Organization", "ldhId": "135637650", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/135637650", "rev": "_inf5B-2--B" } ], "SequenceVariantInterpretation": [ { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" } ] }, "ldhId": "135637580", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637580", "modified": "2026-02-13T22:45:40.675Z", "modifier": "tildacarlelycke", "rev": "_lDisZM6---" }, { "entContent": { "approvedOn": "2025-11-20T20:05:07.488Z", "description": "TP53 Rule Specifications for the ACMG/AMP Variant Curation Guidelines", "namespace": "GN009", "notes": "", "references": [ { "source": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/33300245/" } ], "releaseNotes": "* v2.0.0\n * Major version 2 VCEP updates with SVI feedback from first submission incorporated\n * Points based evidence combining criteria based on modified Bayesian points system\n* v.2.1.0\n * Minor edit to PS3/BS3 language for clarification purposes. No change to rule codes.\n* v.2.2.0\n * Deleted comment from PVS1 spreadsheet\n* v.2.3.0\n * Minor PP4 language clarifications\n * Minor BP7 strong code language clarification\n * Updated functional and in silico flowcharts. Publication versions.\n* v.2.4.0\n * Minor update of the functional rules to incorporate eligible assay data\n * Added caveat that functional codes should not be applied if PVS1 is applied for splicing\n * Added clarification to avoid double counting of PS4 HER2+ points\n * Minor language clarifications\n * Uploaded additional supporting files\n * Updated Cspec to Tavtigian points based system instead of combining criteria", "shortTitle": "TP53 VCEP ACMG/AMP Specifications", "specificationSource": "", "states": [ { "current": true, "event": { "modifiedBy": "Megfrone", "name": "cspec-released", "prevState": "Approved For Release", "timeStamp": "2025-11-20T20:05:07.488Z" }, "name": "Released" }, { "current": false, "event": { "modifiedBy": "Megfrone", "name": "cspec-reopened", "prevState": "Released", "timeStamp": "2025-10-09T20:24:16.345Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "Megfrone", "name": "pilot-rules-submitted", "prevState": "Pilot Rules In Prep", "timeStamp": "2025-11-17T21:34:42.887Z" }, "name": "Pilot Rules Submitted" }, { "current": false, "event": { "modifiedBy": "sharriso", "name": "pilot-rules-approved", "prevState": "Pilot Rules Submitted", "timeStamp": "2025-11-20T19:28:27.285Z" }, "name": "Approved For Release" }, { "current": false, "event": { "modifiedBy": "Megfrone", "name": "pilot-rules-withdrawn", "prevState": "Pilot Rules Submitted", "timeStamp": "2023-08-07T19:00:30.101Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "sharriso", "name": "pilot-rules-reviewed", "prevState": "Pilot Rules Submitted", "timeStamp": "2025-11-06T18:46:09.915Z" }, "name": "Pilot Rules In Prep" } ], "tagNameSpaces": [ "009" ], "title": "ClinGen TP53 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for TP53 Version 2.4.0", "type": "Tavtigian et.al., 2020 - Bayesian adaptation of Richards et.al., 2015", "version": "2.4.0", "versioned": true }, "entId": "GN009", "entType": "SequenceVariantInterpretation", "ld": { "Assertion": [ { "entType": "Assertion", "ldhId": "135642237", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642237", "rev": "_inf5Alm--B" }, { "entType": "Assertion", "ldhId": "135642236", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642236", "rev": "_inf5Alm--A" }, { "entType": "Assertion", "ldhId": "135642234", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642234", "rev": "_inf5Ale--A" }, { "entType": "Assertion", "ldhId": "135642231", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642231", "rev": "_inf5Ale--_" }, { "entType": "Assertion", "ldhId": "135642233", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642233", "rev": "_inf5Alm--_" }, { "entType": "Assertion", "ldhId": "135642232", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642232", "rev": "_inf5Ale---" }, { "entType": "Assertion", "ldhId": "135642235", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642235", "rev": "_inf5Ale--_" } ], "CriteriaCode": [ { "entType": "CriteriaCode", "ldhId": "638432995", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/638432995", "rev": "_koJc3da---" }, { "entType": "CriteriaCode", "ldhId": "135639229", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639229", "rev": "_koJc3bO---" }, { "entType": "CriteriaCode", "ldhId": "135639222", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639222", "rev": "_koJc3a6---" }, { "entType": "CriteriaCode", "ldhId": "135639218", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639218", "rev": "_koJc3ei---" }, { "entType": "CriteriaCode", "ldhId": "135639212", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639212", "rev": "_koJc3bm---" }, { "entType": "CriteriaCode", "ldhId": "135639206", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639206", "rev": "_koJc3ZO---" }, { "entType": "CriteriaCode", "ldhId": "638432995", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/638432995", "rev": "_koJc3da---" }, { "entType": "CriteriaCode", "ldhId": "638432994", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/638432994", "rev": "_koJc3dC---" }, { "entType": "CriteriaCode", "ldhId": "135639230", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639230", "rev": "_koJc3WG---" }, { "entType": "CriteriaCode", "ldhId": "135639228", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639228", "rev": "_koJc3Z----" }, { "entType": "CriteriaCode", "ldhId": "135639223", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639223", "rev": "_koJc3Z2---" }, { "entType": "CriteriaCode", "ldhId": "135639217", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639217", "rev": "_koJc3W2---" }, { "entType": "CriteriaCode", "ldhId": "638432994", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/638432994", "rev": "_koJc3dC---" }, { "entType": "CriteriaCode", "ldhId": "135639226", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639226", "rev": "_koJc3Vm---" }, { "entType": "CriteriaCode", "ldhId": "135639216", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639216", "rev": "_koJc3Xy---" }, { "entType": "CriteriaCode", "ldhId": "135639215", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639215", "rev": "_koJc3Xi---" }, { "entType": "CriteriaCode", "ldhId": "135639207", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639207", "rev": "_koJc3dq---" }, { "entType": "CriteriaCode", "ldhId": "135639225", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639225", "rev": "_koJc3Yq---" }, { "entType": "CriteriaCode", "ldhId": "135639214", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639214", "rev": "_koJc3c----" }, { "entType": "CriteriaCode", "ldhId": "135639213", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639213", "rev": "_koJc3aS---" }, { "entType": "CriteriaCode", "ldhId": "135639211", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639211", "rev": "_koJc3eO---" }, { "entType": "CriteriaCode", "ldhId": "135639210", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639210", "rev": "_koJc3Zi---" }, { "entType": "CriteriaCode", "ldhId": "638432994", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/638432994", "rev": "_koJc3dC---" }, { "entType": "CriteriaCode", "ldhId": "135639231", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639231", "rev": "_koJc3Wa---" }, { "entType": "CriteriaCode", "ldhId": "135639227", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639227", "rev": "_koJc3cq---" }, { "entType": "CriteriaCode", "ldhId": "135639224", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639224", "rev": "_koJc3ai---" }, { "entType": "CriteriaCode", "ldhId": "135639221", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639221", "rev": "_koJc3Ye---" }, { "entType": "CriteriaCode", "ldhId": "135639220", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639220", "rev": "_koJc3YG---" }, { "entType": "CriteriaCode", "ldhId": "135639219", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639219", "rev": "_koJc3cW---" }, { "entType": "CriteriaCode", "ldhId": "135639209", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639209", "rev": "_koJc3XG---" }, { "entType": "CriteriaCode", "ldhId": "135639208", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639208", "rev": "_koJc3d6---" } ], "Disease": [ { "entId": "MONDO:0018875", "entIri": "http://purl.obolibrary.org/obo/MONDO_0018875", "entType": "Disease", "ldhId": "135642164", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642164", "rev": "_kZ7yeWy---" } ], "EvidenceCategory": [ { "entType": "EvidenceCategory", "ldhId": "135642486", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642486", "rev": "_inf5AsS--_" }, { "entType": "EvidenceCategory", "ldhId": "135642490", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642490", "rev": "_inf5Asm--r" }, { "entType": "EvidenceCategory", "ldhId": "135642485", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642485", "rev": "_inf5Asi---" }, { "entType": "EvidenceCategory", "ldhId": "135642491", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642491", "rev": "_inf5Asi--B" }, { "entType": "EvidenceCategory", "ldhId": "135642487", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642487", "rev": "_inf5Asi--_" }, { "entType": "EvidenceCategory", "ldhId": "135642492", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642492", "rev": "_inf5Asm--t" }, { "entType": "EvidenceCategory", "ldhId": "135642488", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642488", "rev": "_inf5Asi--A" }, { "entType": "EvidenceCategory", "ldhId": "135642489", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642489", "rev": "_inf5Asm--o" } ], "Gene": [ { "entId": "TP53", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11998", "entType": "Gene", "ldhId": "135641899", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/135641899", "rev": "_inf5A8---G" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "135640873", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/135640873", "rev": "_koJc3Pi---" } ] }, "ldFor": { "Organization": [ { "entId": "50013", "entIri": "http://clinicalgenome.org/affiliation/50013", "entType": "Organization", "ldhId": "135637637", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/135637637", "rev": "_inf5B_G--_" } ], "SequenceVariantInterpretation": [ { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" } ] }, "ldhId": "135637581", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637581", "modified": "2025-11-20T20:05:07.877Z", "modifier": "Megfrone", "rev": "_koJc3K6---" }, { "entContent": { "approvedOn": "2021-06-02T00:00:00.000Z", "description": "LSD EP specifications to the ACMG/AMP Variant Curation Guidelines", "namespace": "GN010", "notes": "", "references": [], "releaseNotes": "\n * Specifications for PS3 and BS3 have been revised and the strength has been downgraded.\n * PM2 has been downgraded to PM2_Supporting.\n * PP4 has been revised to allow the use of additional evidence types with strength of evidence based on a points system.\n * Cases are no longer required to meet the strict PP4 criterion in order to be counted for PM3.\n * Specifications for PM1 and BS2 are now included.\n * The tools used for in silico prediction of the impact of splice variants and in frame insertions and deletions for PP3 and BP4 have been revised.", "shortTitle": "LSD VCEP ACMG/AMP Specifications", "specificationSource": "https://clinicalgenome.org/docs/clingen-lysosomal-storage-disorders-expert-panel-specifications-to-the-acmg-amp-variant-interpretation-guidelines-version-2/", "states": [ { "current": true, "event": { "name": "cspec-released", "prevState": "Approved For Release", "timeStamp": "2021-06-02T00:00:00.000Z" }, "name": "Released" } ], "tagNameSpaces": [ "010" ], "title": "ClinGen Lysosomal Storage Disorders Variant Curation Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2", "version": "2.0.0" }, "entId": "GN010", "entType": "SequenceVariantInterpretation", "ld": { "Assertion": [ { "entType": "Assertion", "ldhId": "135642235", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642235", "rev": "_inf5Ale--_" }, { "entType": "Assertion", "ldhId": "135642237", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642237", "rev": "_inf5Alm--B" }, { "entType": "Assertion", "ldhId": "135642234", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642234", "rev": "_inf5Ale--A" }, { "entType": "Assertion", "ldhId": "135642233", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642233", "rev": "_inf5Alm--_" }, { "entType": "Assertion", "ldhId": "135642236", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642236", "rev": "_inf5Alm--A" }, { "entType": "Assertion", "ldhId": "135642231", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642231", "rev": "_inf5Ale--_" }, { "entType": "Assertion", "ldhId": "135642232", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642232", "rev": "_inf5Ale---" } ], "CriteriaCode": [ { "entType": "CriteriaCode", "ldhId": "135639311", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639311", "rev": "_inf5Apu--H" }, { "entType": "CriteriaCode", "ldhId": "135639299", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639299", "rev": "_inf5Ape--Z" }, { "entType": "CriteriaCode", "ldhId": "135639294", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639294", "rev": "_inf5Ape--X" }, { "entType": "CriteriaCode", "ldhId": "135639292", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639292", "rev": "_inf5Apa--C" }, { "entType": "CriteriaCode", "ldhId": "135639290", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639290", "rev": "_inf5Apu--E" }, { "entType": "CriteriaCode", "ldhId": "135639288", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639288", "rev": "_inf5Apy--D" }, { "entType": "CriteriaCode", "ldhId": "135639308", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639308", "rev": "_inf5Apu--E" }, { "entType": "CriteriaCode", "ldhId": "135639301", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639301", "rev": "_inf5Api--F" }, { "entType": "CriteriaCode", "ldhId": "135639300", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639300", "rev": "_inf5Apu--F" }, { "entType": "CriteriaCode", "ldhId": "135639297", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639297", "rev": "_inf5Api--E" }, { "entType": "CriteriaCode", "ldhId": "135639295", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639295", "rev": "_inf5Apy--i" }, { "entType": "CriteriaCode", "ldhId": "135639291", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639291", "rev": "_inf5Apu--D" }, { "entType": "CriteriaCode", "ldhId": "135639287", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639287", "rev": "_inf5Apu--C" }, { "entType": "CriteriaCode", "ldhId": "638433025", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/638433025", "rev": "_inf5Ap2--H" }, { "entType": "CriteriaCode", "ldhId": "638433024", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/638433024", "rev": "_inf5Apy--K" }, { "entType": "CriteriaCode", "ldhId": "135639309", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639309", "rev": "_inf5Api--H" }, { "entType": "CriteriaCode", "ldhId": "135639305", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639305", "rev": "_inf5Apy--k" }, { "entType": "CriteriaCode", "ldhId": "135639296", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639296", "rev": "_inf5Apa--D" }, { "entType": "CriteriaCode", "ldhId": "135639293", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639293", "rev": "_inf5Apm--m" }, { "entType": "CriteriaCode", "ldhId": "135639289", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639289", "rev": "_inf5Apy--E" }, { "entType": "CriteriaCode", "ldhId": "135639312", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639312", "rev": "_inf5Apy--H" }, { "entType": "CriteriaCode", "ldhId": "135639306", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639306", "rev": "_inf5Apu--G" }, { "entType": "CriteriaCode", "ldhId": "135639304", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639304", "rev": "_inf5Apy--F" }, { "entType": "CriteriaCode", "ldhId": "135639303", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639303", "rev": "_inf5Apy--j" }, { "entType": "CriteriaCode", "ldhId": "135639302", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639302", "rev": "_inf5Ap2--P" }, { "entType": "CriteriaCode", "ldhId": "135639298", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639298", "rev": "_inf5Ape--Y" }, { "entType": "CriteriaCode", "ldhId": "135639310", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639310", "rev": "_inf5Apy--G" }, { "entType": "CriteriaCode", "ldhId": "135639307", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639307", "rev": "_inf5Ape--a" } ], "Disease": [ { "entId": "MONDO:0009290", "entIri": "http://purl.obolibrary.org/obo/MONDO_0009290", "entType": "Disease", "ldhId": "135642171", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642171", "rev": "_kZ7wdYG--A" } ], "EvidenceCategory": [ { "entType": "EvidenceCategory", "ldhId": "135642485", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642485", "rev": "_inf5Asi---" }, { "entType": "EvidenceCategory", "ldhId": "135642490", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642490", "rev": "_inf5Asm--r" }, { "entType": "EvidenceCategory", "ldhId": "135642489", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642489", "rev": "_inf5Asm--o" }, { "entType": "EvidenceCategory", "ldhId": "135642487", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642487", "rev": "_inf5Asi--_" }, { "entType": "EvidenceCategory", "ldhId": "135642492", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642492", "rev": "_inf5Asm--t" }, { "entType": "EvidenceCategory", "ldhId": "135642491", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642491", "rev": "_inf5Asi--B" }, { "entType": "EvidenceCategory", "ldhId": "135642488", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642488", "rev": "_inf5Asi--A" }, { "entType": "EvidenceCategory", "ldhId": "135642486", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642486", "rev": "_inf5AsS--_" } ], "Gene": [ { "entId": "GAA", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4065", "entType": "Gene", "ldhId": "135641911", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/135641911", "rev": "_inf5A8S--A" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "135640933", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/135640933", "rev": "_inf5BHO--C" } ] }, "ldFor": { "Organization": [ { "entId": "50009", "entIri": "http://clinicalgenome.org/affiliation/50009", "entType": "Organization", "ldhId": "135637633", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/135637633", "rev": "_inf5B-6--E" } ], "SequenceVariantInterpretation": [ { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" } ] }, "ldhId": "135637582", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637582", "modified": "2023-09-29T15:16:46.069Z", "modifier": "cspecAdministrator", "rev": "_inf5BXi--T" }, { "entContent": { "approvedOn": "2021-11-01T00:00:00.000Z", "description": "This version specified for the following genes: ITGA2B, ITGB3", "hideFlag": false, "legacy": true, "legacyReplaced": false, "namespace": "GN011", "notes": "", "references": [], "releaseNotes": "Updated MONDO ID for Glanzmann thrombasthenia from MONDO:0010119 to MONDO:0100326 (November 2021).", "shortTitle": "ACMG variant classification Platelet Disorders", "specificationSource": "https://clinicalgenome.org/docs/clingen-platelet-disorders-expert-panel-specifications-to-the-acmg-amp-variant-interpretation-guidelines-version-2.1/", "states": [ { "current": true, "event": { "name": "cspec-released", "prevState": "Approved For Release", "timeStamp": "2021-11-01T00:00:00.000Z" }, "name": "Released" } ], "tagNameSpaces": [ "011" ], "title": "ClinGen Platelet Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2.1", "version": "2.1.0" }, "entId": "GN011", "entType": "SequenceVariantInterpretation", "ld": { "Assertion": [ { "entType": "Assertion", "ldhId": "135642232", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642232", "rev": "_inf5Ale---" }, { "entType": "Assertion", "ldhId": "135642231", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642231", "rev": "_inf5Ale--_" }, { "entType": "Assertion", "ldhId": "135642237", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642237", "rev": "_inf5Alm--B" }, { "entType": "Assertion", "ldhId": "135642234", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642234", "rev": "_inf5Ale--A" }, { "entType": "Assertion", "ldhId": "135642236", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642236", "rev": "_inf5Alm--A" }, { "entType": "Assertion", "ldhId": "135642233", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642233", "rev": "_inf5Alm--_" }, { "entType": "Assertion", "ldhId": "135642235", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642235", "rev": "_inf5Ale--_" } ], "CriteriaCode": [ { "entType": "CriteriaCode", "ldhId": "638433055", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/638433055", "rev": "_inf5Apy--W" }, { "entType": "CriteriaCode", "ldhId": "135639389", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639389", "rev": "_inf5Ap2--D" }, { "entType": "CriteriaCode", "ldhId": "135639388", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639388", "rev": "_inf5Ap2--Q" }, { "entType": "CriteriaCode", "ldhId": "135639387", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639387", "rev": "_inf5Apy--D" }, { "entType": "CriteriaCode", "ldhId": "135639376", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639376", "rev": "_inf5Apy--_" }, { "entType": "CriteriaCode", "ldhId": "135639373", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639373", "rev": "_inf5Apm--Y" }, { "entType": "CriteriaCode", "ldhId": "135639368", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639368", "rev": "_inf5Apy---" }, { "entType": "CriteriaCode", "ldhId": "638433054", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/638433054", "rev": "_inf5Ape--M" }, { "entType": "CriteriaCode", "ldhId": "135639385", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639385", "rev": "_inf5Apy--C" }, { "entType": "CriteriaCode", "ldhId": "135639379", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639379", "rev": "_inf5Apy--A" }, { "entType": "CriteriaCode", "ldhId": "135639372", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639372", "rev": "_inf5Apm--X" }, { "entType": "CriteriaCode", "ldhId": "135639369", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639369", "rev": "_inf5Ape---" }, { "entType": "CriteriaCode", "ldhId": "135639386", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639386", "rev": "_inf5Ap2--C" }, { "entType": "CriteriaCode", "ldhId": "135639383", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639383", "rev": "_inf5Apy--Q" }, { "entType": "CriteriaCode", "ldhId": "135639382", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639382", "rev": "_inf5Ape--D" }, { "entType": "CriteriaCode", "ldhId": "135639374", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639374", "rev": "_inf5Ape--_" }, { "entType": "CriteriaCode", "ldhId": "135639393", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639393", "rev": "_inf5Apm--a" }, { "entType": "CriteriaCode", "ldhId": "135639392", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639392", "rev": "_inf5Ape--E" }, { "entType": "CriteriaCode", "ldhId": "135639390", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639390", "rev": "_inf5Apy--R" }, { "entType": "CriteriaCode", "ldhId": "135639384", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639384", "rev": "_inf5Apy--B" }, { "entType": "CriteriaCode", "ldhId": "135639378", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639378", "rev": "_inf5Ape--B" }, { "entType": "CriteriaCode", "ldhId": "135639391", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639391", "rev": "_inf5Apm--Z" }, { "entType": "CriteriaCode", "ldhId": "135639381", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639381", "rev": "_inf5Apy--P" }, { "entType": "CriteriaCode", "ldhId": "135639380", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639380", "rev": "_inf5Ape--C" }, { "entType": "CriteriaCode", "ldhId": "135639377", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639377", "rev": "_inf5Ap2--B" }, { "entType": "CriteriaCode", "ldhId": "135639375", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639375", "rev": "_inf5Ape--A" }, { "entType": "CriteriaCode", "ldhId": "135639371", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639371", "rev": "_inf5Apy--O" }, { "entType": "CriteriaCode", "ldhId": "135639370", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639370", "rev": "_inf5Apy--N" } ], "Disease": [ { "entId": "MONDO:0010119", "entIri": "http://purl.obolibrary.org/obo/MONDO_0010119", "entType": "Disease", "ldhId": "135642178", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642178", "rev": "_kZ7wpRC---" }, { "entId": "MONDO:0100326", "entIri": "http://purl.obolibrary.org/obo/MONDO_0100326", "entType": "Disease", "ldhId": "467880243", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/467880243", "rev": "_kZ7z7IO---" }, { "entId": "MONDO:0010119", "entIri": "http://purl.obolibrary.org/obo/MONDO_0010119", "entType": "Disease", "ldhId": "135642179", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642179", "rev": "_inf5BHG--X" } ], "EvidenceCategory": [ { "entType": "EvidenceCategory", "ldhId": "135642491", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642491", "rev": "_inf5Asi--B" }, { "entType": "EvidenceCategory", "ldhId": "135642488", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642488", "rev": "_inf5Asi--A" }, { "entType": "EvidenceCategory", "ldhId": "135642487", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642487", "rev": "_inf5Asi--_" }, { "entType": "EvidenceCategory", "ldhId": "135642492", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642492", "rev": "_inf5Asm--t" }, { "entType": "EvidenceCategory", "ldhId": "135642490", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642490", "rev": "_inf5Asm--r" }, { "entType": "EvidenceCategory", "ldhId": "135642489", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642489", "rev": "_inf5Asm--o" }, { "entType": "EvidenceCategory", "ldhId": "135642486", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642486", "rev": "_inf5AsS--_" }, { "entType": "EvidenceCategory", "ldhId": "135642485", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642485", "rev": "_inf5Asi---" } ], "Gene": [ { "entId": "ITGB3", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6156", "entType": "Gene", "ldhId": "135641919", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/135641919", "rev": "_inf5A8---B" }, { "entId": "ITGA2B", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6138", "entType": "Gene", "ldhId": "135641918", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/135641918", "rev": "_inf5A8S--D" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "135640993", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/135640993", "rev": "_inf5BHO--D" } ], "SequenceVariantInterpretation": [ { "entId": "GN060", "entType": "SequenceVariantInterpretation", "ldhId": "643243130", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243130", "rev": "_inf5BXW--B" }, { "entId": "GN059", "entType": "SequenceVariantInterpretation", "ldhId": "643243129", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243129", "rev": "_inf5BXe--D" } ] }, "ldFor": { "Organization": [ { "entId": "50040", "entIri": "https://www.clinicalgenome.org/affiliation/50040", "entType": "Organization", "ldhId": "135637652", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/135637652", "rev": "_inf5B_---B" } ], "SequenceVariantInterpretation": [ { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" } ] }, "ldhId": "135637583", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637583", "modified": "2023-09-29T15:16:47.242Z", "modifier": "cspecAdministrator", "rev": "_inf5BXW--G" }, { "entContent": { "approvedOn": "2022-03-01T00:00:00.000Z", "description": "This version specified for the following genes: RYR1", "namespace": "GN012", "notes": "", "references": [ { "source": "BioRxiv", "url": "https://doi.org/10.1101/2020.11.29.402768" } ], "releaseNotes": "\n(1) Revised PS4 such that at all strength levels an individual with two VUS/LP/P variants in RYR1 cannot be considered as supporting pathogenicity of either variant.\n(2) PS1 can be used at level moderate for previously classified likely pathogenic variant at the same codon with the same amino acid change.\n(3) PM5 can be used at level supporting for previously classified likely pathogenic variant at the same codon, different amino acid change.\n(4) PM1 should be downgraded to supporting when either PS1 or PM5 are used.", "shortTitle": "ACMG variant classification Malignant Hyperthermia", "specificationSource": "https://clinicalgenome.org/docs/clingen-malignant-hyperthermia-susceptibility-expert-panel-specifications-to-the-acmg-amp-variant-interpretation-guidelines-for/", "states": [ { "current": true, "event": { "name": "cspec-released", "prevState": "Approved For Release", "timeStamp": "2022-03-01T00:00:00.000Z" }, "name": "Released" } ], "tagNameSpaces": [ "012" ], "title": "ClinGen Malignant Hyperthermia Susceptibility Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for RYR1 Version 2", "version": "2.0.0" }, "entId": "GN012", "entType": "SequenceVariantInterpretation", "ld": { "Assertion": [ { "entType": "Assertion", "ldhId": "135642236", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642236", "rev": "_inf5Alm--A" }, { "entType": "Assertion", "ldhId": "135642235", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642235", "rev": "_inf5Ale--_" }, { "entType": "Assertion", "ldhId": "135642233", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642233", "rev": "_inf5Alm--_" }, { "entType": "Assertion", "ldhId": "135642237", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642237", "rev": "_inf5Alm--B" }, { "entType": "Assertion", "ldhId": "135642232", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642232", "rev": "_inf5Ale---" }, { "entType": "Assertion", "ldhId": "135642234", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642234", "rev": "_inf5Ale--A" }, { "entType": "Assertion", "ldhId": "135642231", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642231", "rev": "_inf5Ale--_" } ], "CriteriaCode": [ { "entType": "CriteriaCode", "ldhId": "135639471", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639471", "rev": "_inf5Apy--Z" }, { "entType": "CriteriaCode", "ldhId": "135639465", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639465", "rev": "_inf5Ap6--O" }, { "entType": "CriteriaCode", "ldhId": "135639459", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639459", "rev": "_inf5Ap2--U" }, { "entType": "CriteriaCode", "ldhId": "135639449", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639449", "rev": "_inf5Apm--n" }, { "entType": "CriteriaCode", "ldhId": "135639473", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639473", "rev": "_inf5Ap6--P" }, { "entType": "CriteriaCode", "ldhId": "135639468", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639468", "rev": "_inf5Apy--o" }, { "entType": "CriteriaCode", "ldhId": "135639464", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639464", "rev": "_inf5Ap2--W" }, { "entType": "CriteriaCode", "ldhId": "135639461", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639461", "rev": "_inf5Ap2--V" }, { "entType": "CriteriaCode", "ldhId": "135639460", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639460", "rev": "_inf5Apm--o" }, { "entType": "CriteriaCode", "ldhId": "135639458", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639458", "rev": "_inf5Ap6--c" }, { "entType": "CriteriaCode", "ldhId": "135639454", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639454", "rev": "_inf5Ap2--W" }, { "entType": "CriteriaCode", "ldhId": "135639453", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639453", "rev": "_inf5Apy--X" }, { "entType": "CriteriaCode", "ldhId": "135639451", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639451", "rev": "_inf5Apy--W" }, { "entType": "CriteriaCode", "ldhId": "638433084", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/638433084", "rev": "_inf5Apy--L" }, { "entType": "CriteriaCode", "ldhId": "135639472", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639472", "rev": "_inf5Apy--p" }, { "entType": "CriteriaCode", "ldhId": "135639462", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639462", "rev": "_inf5Apm--p" }, { "entType": "CriteriaCode", "ldhId": "135639450", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639450", "rev": "_inf5Ap2--R" }, { "entType": "CriteriaCode", "ldhId": "135639474", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639474", "rev": "_inf5Apy--q" }, { "entType": "CriteriaCode", "ldhId": "135639466", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639466", "rev": "_inf5Apy--n" }, { "entType": "CriteriaCode", "ldhId": "135639457", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639457", "rev": "_inf5Apy--l" }, { "entType": "CriteriaCode", "ldhId": "638433085", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/638433085", "rev": "_inf5Ape--N" }, { "entType": "CriteriaCode", "ldhId": "135639470", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639470", "rev": "_inf5Ape--d" }, { "entType": "CriteriaCode", "ldhId": "135639469", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639469", "rev": "_inf5Ape--c" }, { "entType": "CriteriaCode", "ldhId": "135639467", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639467", "rev": "_inf5Ape--b" }, { "entType": "CriteriaCode", "ldhId": "135639463", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639463", "rev": "_inf5Apy--m" }, { "entType": "CriteriaCode", "ldhId": "135639456", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639456", "rev": "_inf5Ap2--T" }, { "entType": "CriteriaCode", "ldhId": "135639455", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639455", "rev": "_inf5Apy--Y" }, { "entType": "CriteriaCode", "ldhId": "135639452", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135639452", "rev": "_inf5Ap2--S" } ], "Disease": [ { "entId": "MONDO:0018493", "entIri": "http://purl.obolibrary.org/obo/MONDO_0018493", "entType": "Disease", "ldhId": "135642187", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642187", "rev": "_kZ7yZ-q---" } ], "EvidenceCategory": [ { "entType": "EvidenceCategory", "ldhId": "135642490", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642490", "rev": "_inf5Asm--r" }, { "entType": "EvidenceCategory", "ldhId": "135642489", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642489", "rev": "_inf5Asm--o" }, { "entType": "EvidenceCategory", "ldhId": "135642492", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642492", "rev": "_inf5Asm--t" }, { "entType": "EvidenceCategory", "ldhId": "135642486", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642486", "rev": "_inf5AsS--_" }, { "entType": "EvidenceCategory", "ldhId": "135642488", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642488", "rev": "_inf5Asi--A" }, { "entType": "EvidenceCategory", "ldhId": "135642491", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642491", "rev": "_inf5Asi--B" }, { "entType": "EvidenceCategory", "ldhId": "135642487", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642487", "rev": "_inf5Asi--_" }, { "entType": "EvidenceCategory", "ldhId": "135642485", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642485", "rev": "_inf5Asi---" } ], "Gene": [ { "entId": "RYR1", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10483", "entType": "Gene", "ldhId": "135641927", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/135641927", "rev": "_inf5A8S--_" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "135641053", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/135641053", "rev": "_inf5BHa--A" } ] }, "ldFor": { "Organization": [ { "entId": "50038", "entIri": "https://www.clinicalgenome.org/affiliation/50038", "entType": "Organization", "ldhId": "135637651", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/135637651", "rev": "_inf5B_G--E" } ], "SequenceVariantInterpretation": [ { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" } ] }, "ldhId": "135637584", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637584", "modified": "2023-09-29T15:16:47.385Z", "modifier": "cspecAdministrator", "rev": "_inf5BXi--U" }, { "entContent": { "approvedOn": "2021-11-09T00:00:00.000Z", "description": "This version is specified for the following genes: LDLR", "namespace": "GN013", "notes": "", "references": [], "releaseNotes": "Updated for clarification on PM3 and BP2, and typo correction.", "releasedUnderRevision": true, "shortTitle": "ACMG variant classification Familial Hypercholesterolemia", "specificationSource": "https://clinicalgenome.org/docs/clingen-familial-hypercholesterolemia-expert-panel-specifications-to-the-acmg-amp-variant-interpretation-guidelines-version-1-2/", "states": [ { "current": false, "event": { "name": "cspec-released", "prevState": "Approved For Release", "timeStamp": "2021-11-09T00:00:00.000Z" }, "name": "Released" }, { "current": false, "event": { "name": "cspec-reopened", "prevState": "Released", "timeStamp": "2026-02-10T21:29:47.991Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "name": "pilot-rules-submitted", "prevState": "Pilot Rules In Prep", "timeStamp": "2026-03-19T18:12:41.554Z" }, "name": "Pilot Rules Submitted" }, { "current": false, "event": { "name": "pilot-rules-withdrawn", "prevState": "Pilot Rules Submitted", "timeStamp": "2026-03-19T17:20:49.070Z" }, "name": "Pilot Rules In Prep" }, { "current": true, "event": { "name": "pilot-rules-reviewed", "prevState": "Pilot Rules Submitted", "timeStamp": "2026-04-03T20:34:58.798Z" }, "name": "Pilot Rules In Prep" } ], "tagNameSpaces": [ "013" ], "title": "ClinGen Familial Hypercholesterolemia Expert Panel Specifications to the ACMG/AMP Variant Classification Guidelines Version 1.2", "version": "1.2.0", "versioned": true }, "entId": "GN013", "entType": "SequenceVariantInterpretation", "ld": { "Assertion": [ { "entType": "Assertion", "ldhId": "135642235", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642235", "rev": "_inf5Ale--_" }, { "entType": "Assertion", "ldhId": "135642233", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642233", "rev": "_inf5Alm--_" }, { "entType": "Assertion", "ldhId": "135642237", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642237", "rev": "_inf5Alm--B" }, { "entType": "Assertion", "ldhId": "135642232", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642232", "rev": "_inf5Ale---" }, { "entType": "Assertion", "ldhId": "135642231", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642231", "rev": "_inf5Ale--_" }, { "entType": "Assertion", "ldhId": "135642236", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642236", "rev": "_inf5Alm--A" }, { "entType": "Assertion", "ldhId": "135642234", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642234", "rev": "_inf5Ale--A" } ], "CriteriaCode": [ { "entType": "CriteriaCode", "ldhId": "638433114", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/638433114", "rev": "_inf5Ape--O" }, { "entType": "CriteriaCode", "ldhId": "135637707", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637707", "rev": "_inf5Apu--B" }, { "entType": "CriteriaCode", "ldhId": "135637704", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637704", "rev": "_inf5Apy--G" }, { "entType": "CriteriaCode", "ldhId": "135637699", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637699", "rev": "_inf5Apu--_" }, { "entType": "CriteriaCode", "ldhId": "135637696", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637696", "rev": "_inf5Apa---" }, { "entType": "CriteriaCode", "ldhId": "135637692", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637692", "rev": "_inf5Apy--E" }, { "entType": "CriteriaCode", "ldhId": "135637716", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637716", "rev": "_inf5Apu--A" }, { "entType": "CriteriaCode", "ldhId": "135637713", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637713", "rev": "_inf5Apy--C" }, { "entType": "CriteriaCode", "ldhId": "135637710", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637710", "rev": "_inf5Apy--B" }, { "entType": "CriteriaCode", "ldhId": "135637708", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637708", "rev": "_inf5Apy--_" }, { "entType": "CriteriaCode", "ldhId": "135637691", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637691", "rev": "_inf5Apu---" }, { "entType": "CriteriaCode", "ldhId": "135637712", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637712", "rev": "_inf5Apa--B" }, { "entType": "CriteriaCode", "ldhId": "135637711", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637711", "rev": "_inf5Ape--f" }, { "entType": "CriteriaCode", "ldhId": "135637709", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637709", "rev": "_inf5Apy--r" }, { "entType": "CriteriaCode", "ldhId": "135637706", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637706", "rev": "_inf5Apy---" }, { "entType": "CriteriaCode", "ldhId": "135637705", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637705", "rev": "_inf5Apu--A" }, { "entType": "CriteriaCode", "ldhId": "135637703", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637703", "rev": "_inf5Ape--e" }, { "entType": "CriteriaCode", "ldhId": "135637700", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637700", "rev": "_inf5Api--B" }, { "entType": "CriteriaCode", "ldhId": "135637697", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637697", "rev": "_inf5Ap2--X" }, { "entType": "CriteriaCode", "ldhId": "135637695", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637695", "rev": "_inf5Apu---" }, { "entType": "CriteriaCode", "ldhId": "135637693", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637693", "rev": "_inf5Api--_" }, { "entType": "CriteriaCode", "ldhId": "638433115", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/638433115", "rev": "_inf5Ape--P" }, { "entType": "CriteriaCode", "ldhId": "135637715", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637715", "rev": "_inf5Api--D" }, { "entType": "CriteriaCode", "ldhId": "135637714", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637714", "rev": "_inf5Api--C" }, { "entType": "CriteriaCode", "ldhId": "135637702", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637702", "rev": "_inf5Apa--_" }, { "entType": "CriteriaCode", "ldhId": "135637701", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637701", "rev": "_inf5Ap2--E" }, { "entType": "CriteriaCode", "ldhId": "135637698", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637698", "rev": "_inf5Api--A" }, { "entType": "CriteriaCode", "ldhId": "135637694", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637694", "rev": "_inf5Apu--_" } ], "Disease": [ { "entId": "MONDO:0007750", "entIri": "http://purl.obolibrary.org/obo/MONDO_0007750", "entType": "Disease", "ldhId": "135641990", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135641990", "rev": "_kZ7wKdG---" } ], "EvidenceCategory": [ { "entType": "EvidenceCategory", "ldhId": "135642492", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642492", "rev": "_inf5Asm--t" }, { "entType": "EvidenceCategory", "ldhId": "135642491", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642491", "rev": "_inf5Asi--B" }, { "entType": "EvidenceCategory", "ldhId": "135642490", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642490", "rev": "_inf5Asm--r" }, { "entType": "EvidenceCategory", "ldhId": "135642489", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642489", "rev": "_inf5Asm--o" }, { "entType": "EvidenceCategory", "ldhId": "135642488", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642488", "rev": "_inf5Asi--A" }, { "entType": "EvidenceCategory", "ldhId": "135642487", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642487", "rev": "_inf5Asi--_" }, { "entType": "EvidenceCategory", "ldhId": "135642486", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642486", "rev": "_inf5AsS--_" }, { "entType": "EvidenceCategory", "ldhId": "135642485", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642485", "rev": "_inf5Asi---" } ], "Gene": [ { "entId": "LDLR", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6547", "entType": "Gene", "ldhId": "135641793", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/135641793", "rev": "_inf5A8S--E" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "135640393", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/135640393", "rev": "_inf5BHW--E" } ] }, "ldFor": { "Organization": [ { "entId": "50004", "entIri": "https://www.clinicalgenome.org/affiliation/50004", "entType": "Organization", "ldhId": "135637628", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/135637628", "rev": "_inf5B_G---" } ], "SequenceVariantInterpretation": [ { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" } ] }, "ldhId": "135637573", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637573", "modified": "2026-04-03T20:34:59.088Z", "modifier": "alexadickson", "rev": "_lTSMWXi--D" }, { "entContent": { "approvedOn": "2020-04-30T00:00:00.000Z", "description": "This document contains one of the two sets of ACMG/AMP specifications from the ClinGen Mitochondrial Disease Nuclear and Mitochondrial Variant Curation Expert Panel", "hideFlag": false, "legacy": true, "legacyReplaced": false, "namespace": "GN014", "shortTitle": "Mitochondrial Disease Nuclear and Mitochondrial Variant Interpretation Guidelines ntDNA", "specificationSource": "https://www.clinicalgenome.org/affiliation/50027/docs/assertion-criteria", "states": [ { "current": true, "event": { "name": "cspec-released", "prevState": "Approved For Release", "timeStamp": "2020-04-30T00:00:00.000Z" }, "name": "Released" } ], "tagNameSpaces": [ "014" ], "title": "ClinGen Mitochondrial Disease Nuclear and Mitochondrial Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1_ntDNA", "version": "1.0.0" }, "entId": "GN014", "entType": "SequenceVariantInterpretation", "ld": { "Assertion": [ { "entType": "Assertion", "ldhId": "135642231", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642231", "rev": "_inf5Ale--_" }, { "entType": "Assertion", "ldhId": "135642234", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642234", "rev": "_inf5Ale--A" }, { "entType": "Assertion", "ldhId": "135642232", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642232", "rev": "_inf5Ale---" }, { "entType": "Assertion", "ldhId": "135642236", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642236", "rev": "_inf5Alm--A" }, { "entType": "Assertion", "ldhId": "135642233", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642233", "rev": "_inf5Alm--_" }, { "entType": "Assertion", "ldhId": "135642237", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642237", "rev": "_inf5Alm--B" }, { "entType": "Assertion", "ldhId": "135642235", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642235", "rev": "_inf5Ale--_" } ], "CriteriaCode": [ { "entType": "CriteriaCode", "ldhId": "638433172", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/638433172", "rev": "_inf5Ape--Q" }, { "entType": "CriteriaCode", "ldhId": "135637954", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637954", "rev": "_inf5Apa--c" }, { "entType": "CriteriaCode", "ldhId": "135637953", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637953", "rev": "_inf5Apa--L" }, { "entType": "CriteriaCode", "ldhId": "135637952", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637952", "rev": "_inf5Apa--K" }, { "entType": "CriteriaCode", "ldhId": "135637945", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637945", "rev": "_inf5Apu--S" }, { "entType": "CriteriaCode", "ldhId": "135637940", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637940", "rev": "_inf5Apy--V" }, { "entType": "CriteriaCode", "ldhId": "135637937", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637937", "rev": "_inf5Apy--c" }, { "entType": "CriteriaCode", "ldhId": "135637933", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637933", "rev": "_inf5Apu--N" }, { "entType": "CriteriaCode", "ldhId": "135637927", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637927", "rev": "_inf5Api--V" }, { "entType": "CriteriaCode", "ldhId": "135637925", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637925", "rev": "_inf5Ap2--C" }, { "entType": "CriteriaCode", "ldhId": "135637924", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637924", "rev": "_inf5Api--U" }, { "entType": "CriteriaCode", "ldhId": "135637918", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637918", "rev": "_inf5Ap2--B" }, { "entType": "CriteriaCode", "ldhId": "135637917", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637917", "rev": "_inf5Apa--I" }, { "entType": "CriteriaCode", "ldhId": "135637911", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637911", "rev": "_inf5Apq---" }, { "entType": "CriteriaCode", "ldhId": "135637910", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637910", "rev": "_inf5Api--P" }, { "entType": "CriteriaCode", "ldhId": "135637908", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637908", "rev": "_inf5Apu--O" }, { "entType": "CriteriaCode", "ldhId": "135637903", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637903", "rev": "_inf5Apa--a" }, { "entType": "CriteriaCode", "ldhId": "135637866", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637866", "rev": "_inf5Apa--G" }, { "entType": "CriteriaCode", "ldhId": "135637863", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637863", "rev": "_inf5Apy--J" }, { "entType": "CriteriaCode", "ldhId": "135637856", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637856", "rev": "_inf5Api--I" }, { "entType": "CriteriaCode", "ldhId": "135637855", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637855", "rev": "_inf5Apy--I" }, { "entType": "CriteriaCode", "ldhId": "638433226", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/638433226", "rev": "_inf5Ap2--K" }, { "entType": "CriteriaCode", "ldhId": "638433171", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/638433171", "rev": "_inf5Apm--e" }, { "entType": "CriteriaCode", "ldhId": "135637949", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637949", "rev": "_inf5Apy--Y" }, { "entType": "CriteriaCode", "ldhId": "135637943", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637943", "rev": "_inf5Apy--X" }, { "entType": "CriteriaCode", "ldhId": "135637922", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637922", "rev": "_inf5Apy--K" }, { "entType": "CriteriaCode", "ldhId": "135637916", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637916", "rev": "_inf5Apu--P" }, { "entType": "CriteriaCode", "ldhId": "135637915", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637915", "rev": "_inf5Api--T" }, { "entType": "CriteriaCode", "ldhId": "135637914", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637914", "rev": "_inf5Api--S" }, { "entType": "CriteriaCode", "ldhId": "135637907", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637907", "rev": "_inf5Apy--R" }, { "entType": "CriteriaCode", "ldhId": "135637904", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637904", "rev": "_inf5Apy--Q" }, { "entType": "CriteriaCode", "ldhId": "135637899", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637899", "rev": "_inf5Ap2--_" }, { "entType": "CriteriaCode", "ldhId": "135637898", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637898", "rev": "_inf5Apy--N" }, { "entType": "CriteriaCode", "ldhId": "135637895", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637895", "rev": "_inf5Ap2--a" }, { "entType": "CriteriaCode", "ldhId": "135637893", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637893", "rev": "_inf5Apu--L" }, { "entType": "CriteriaCode", "ldhId": "135637885", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637885", "rev": "_inf5Ap2---" }, { "entType": "CriteriaCode", "ldhId": "135637879", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637879", "rev": "_inf5Apy--K" }, { "entType": "CriteriaCode", "ldhId": "135637872", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637872", "rev": "_inf5Apu--K" }, { "entType": "CriteriaCode", "ldhId": "135637869", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637869", "rev": "_inf5Apm--r" }, { "entType": "CriteriaCode", "ldhId": "135637860", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637860", "rev": "_inf5Api--J" }, { "entType": "CriteriaCode", "ldhId": "135637858", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637858", "rev": "_inf5Apa--F" }, { "entType": "CriteriaCode", "ldhId": "638433198", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/638433198", "rev": "_inf5Ap2--J" }, { "entType": "CriteriaCode", "ldhId": "135637955", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637955", "rev": "_inf5Ape--i" }, { "entType": "CriteriaCode", "ldhId": "135637939", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637939", "rev": "_inf5Apy--U" }, { "entType": "CriteriaCode", "ldhId": "135637932", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637932", "rev": "_inf5Apa--b" }, { "entType": "CriteriaCode", "ldhId": "135637931", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637931", "rev": "_inf5Apu--M" }, { "entType": "CriteriaCode", "ldhId": "135637930", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637930", "rev": "_inf5Apm---" }, { "entType": "CriteriaCode", "ldhId": "135637929", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637929", "rev": "_inf5Ape--g" }, { "entType": "CriteriaCode", "ldhId": "135637928", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637928", "rev": "_inf5Apy--L" }, { "entType": "CriteriaCode", "ldhId": "135637920", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637920", "rev": "_inf5Apy--J" }, { "entType": "CriteriaCode", "ldhId": "135637905", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637905", "rev": "_inf5Apu--N" }, { "entType": "CriteriaCode", "ldhId": "135637901", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637901", "rev": "_inf5Apy--P" }, { "entType": "CriteriaCode", "ldhId": "135637894", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637894", "rev": "_inf5Apm--V" }, { "entType": "CriteriaCode", "ldhId": "135637883", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637883", "rev": "_inf5Apy--u" }, { "entType": "CriteriaCode", "ldhId": "135637882", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637882", "rev": "_inf5Apa--H" }, { "entType": "CriteriaCode", "ldhId": "135637881", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637881", "rev": "_inf5Api--N" }, { "entType": "CriteriaCode", "ldhId": "135637876", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637876", "rev": "_inf5Apa--Z" }, { "entType": "CriteriaCode", "ldhId": "135637874", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637874", "rev": "_inf5Apu--H" }, { "entType": "CriteriaCode", "ldhId": "135637873", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637873", "rev": "_inf5Apy--t" }, { "entType": "CriteriaCode", "ldhId": "135637867", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637867", "rev": "_inf5Apu--J" }, { "entType": "CriteriaCode", "ldhId": "135637861", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637861", "rev": "_inf5Apu--I" }, { "entType": "CriteriaCode", "ldhId": "638433225", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/638433225", "rev": "_inf5Apm--f" }, { "entType": "CriteriaCode", "ldhId": "638433145", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/638433145", "rev": "_inf5Apy--M" }, { "entType": "CriteriaCode", "ldhId": "638433144", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/638433144", "rev": "_inf5Ap2--I" }, { "entType": "CriteriaCode", "ldhId": "135637956", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637956", "rev": "_inf5Apu--P" }, { "entType": "CriteriaCode", "ldhId": "135637951", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637951", "rev": "_inf5Apq--_" }, { "entType": "CriteriaCode", "ldhId": "135637944", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637944", "rev": "_inf5Apm--A" }, { "entType": "CriteriaCode", "ldhId": "135637942", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637942", "rev": "_inf5Apu--R" }, { "entType": "CriteriaCode", "ldhId": "135637938", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637938", "rev": "_inf5Apm--_" }, { "entType": "CriteriaCode", "ldhId": "135637935", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637935", "rev": "_inf5Apy--b" }, { "entType": "CriteriaCode", "ldhId": "135637919", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637919", "rev": "_inf5Apy--S" }, { "entType": "CriteriaCode", "ldhId": "135637912", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637912", "rev": "_inf5Api--Q" }, { "entType": "CriteriaCode", "ldhId": "135637909", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637909", "rev": "_inf5Ap2--A" }, { "entType": "CriteriaCode", "ldhId": "135637892", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637892", "rev": "_inf5Apm--s" }, { "entType": "CriteriaCode", "ldhId": "135637888", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637888", "rev": "_inf5Apu--K" }, { "entType": "CriteriaCode", "ldhId": "135637887", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637887", "rev": "_inf5Apu--J" }, { "entType": "CriteriaCode", "ldhId": "135637884", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637884", "rev": "_inf5Apy--L" }, { "entType": "CriteriaCode", "ldhId": "135637878", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637878", "rev": "_inf5Api--M" }, { "entType": "CriteriaCode", "ldhId": "135637877", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637877", "rev": "_inf5Ap2--Y" }, { "entType": "CriteriaCode", "ldhId": "638433199", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/638433199", "rev": "_inf5Apy--N" }, { "entType": "CriteriaCode", "ldhId": "135637950", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637950", "rev": "_inf5Apu--T" }, { "entType": "CriteriaCode", "ldhId": "135637948", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637948", "rev": "_inf5Apm--W" }, { "entType": "CriteriaCode", "ldhId": "135637947", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637947", "rev": "_inf5Ape--h" }, { "entType": "CriteriaCode", "ldhId": "135637946", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637946", "rev": "_inf5Apy--M" }, { "entType": "CriteriaCode", "ldhId": "135637941", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637941", "rev": "_inf5Apy--W" }, { "entType": "CriteriaCode", "ldhId": "135637936", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637936", "rev": "_inf5Apy--T" }, { "entType": "CriteriaCode", "ldhId": "135637934", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637934", "rev": "_inf5Apu--O" }, { "entType": "CriteriaCode", "ldhId": "135637926", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637926", "rev": "_inf5Apa--J" }, { "entType": "CriteriaCode", "ldhId": "135637923", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637923", "rev": "_inf5Apu--Q" }, { "entType": "CriteriaCode", "ldhId": "135637921", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637921", "rev": "_inf5Ap2--b" }, { "entType": "CriteriaCode", "ldhId": "135637913", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637913", "rev": "_inf5Api--R" }, { "entType": "CriteriaCode", "ldhId": "135637906", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637906", "rev": "_inf5Ap2--A" }, { "entType": "CriteriaCode", "ldhId": "135637902", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637902", "rev": "_inf5Apy--I" }, { "entType": "CriteriaCode", "ldhId": "135637900", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637900", "rev": "_inf5Apy--O" }, { "entType": "CriteriaCode", "ldhId": "135637897", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637897", "rev": "_inf5Api--O" }, { "entType": "CriteriaCode", "ldhId": "135637896", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637896", "rev": "_inf5Apu--h" }, { "entType": "CriteriaCode", "ldhId": "135637891", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637891", "rev": "_inf5Apy--M" }, { "entType": "CriteriaCode", "ldhId": "135637890", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637890", "rev": "_inf5Apu--M" }, { "entType": "CriteriaCode", "ldhId": "135637889", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637889", "rev": "_inf5Apy--a" }, { "entType": "CriteriaCode", "ldhId": "135637886", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637886", "rev": "_inf5Apu--I" }, { "entType": "CriteriaCode", "ldhId": "135637880", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637880", "rev": "_inf5Ap2--Z" }, { "entType": "CriteriaCode", "ldhId": "135637875", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637875", "rev": "_inf5Apu--L" }, { "entType": "CriteriaCode", "ldhId": "135637871", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637871", "rev": "_inf5Api--L" }, { "entType": "CriteriaCode", "ldhId": "135637870", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637870", "rev": "_inf5Apy--H" }, { "entType": "CriteriaCode", "ldhId": "135637868", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637868", "rev": "_inf5Apm--U" }, { "entType": "CriteriaCode", "ldhId": "135637865", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637865", "rev": "_inf5Apu--G" }, { "entType": "CriteriaCode", "ldhId": "135637864", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637864", "rev": "_inf5Api--K" }, { "entType": "CriteriaCode", "ldhId": "135637862", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637862", "rev": "_inf5Apu--F" }, { "entType": "CriteriaCode", "ldhId": "135637859", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637859", "rev": "_inf5Apy--s" }, { "entType": "CriteriaCode", "ldhId": "135637857", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637857", "rev": "_inf5Apm--q" }, { "entType": "CriteriaCode", "ldhId": "135637854", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637854", "rev": "_inf5Apa--Y" }, { "entType": "CriteriaCode", "ldhId": "135637853", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135637853", "rev": "_inf5Apa--E" } ], "Disease": [ { "entId": "MONDO:0044970", "entIri": "http://purl.obolibrary.org/obo/MONDO_0044970", "entType": "Disease", "ldhId": "135642194", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642194", "rev": "_kZ7zyIC---" }, { "entId": "MONDO:0011841", "entIri": "http://purl.obolibrary.org/obo/MONDO_0011841", "entType": "Disease", "ldhId": "135642197", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642197", "rev": "_kZ7xAD2---" }, { "entId": "MONDO:0019169", "entIri": "http://purl.obolibrary.org/obo/MONDO_0019169", "entType": "Disease", "ldhId": "135642195", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642195", "rev": "_kZ7yidK---" }, { "entId": "MONDO:0011229", "entIri": "http://purl.obolibrary.org/obo/MONDO_0011229", "entType": "Disease", "ldhId": "135642196", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642196", "rev": "_kZ7w4OO---" } ], "EvidenceCategory": [ { "entType": "EvidenceCategory", "ldhId": "135642491", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642491", "rev": "_inf5Asi--B" }, { "entType": "EvidenceCategory", "ldhId": "135642487", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642487", "rev": "_inf5Asi--_" }, { "entType": "EvidenceCategory", "ldhId": "135642489", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642489", "rev": "_inf5Asm--o" }, { "entType": "EvidenceCategory", "ldhId": "135642488", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642488", "rev": "_inf5Asi--A" }, { "entType": "EvidenceCategory", "ldhId": "135642485", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642485", "rev": "_inf5Asi---" }, { "entType": "EvidenceCategory", "ldhId": "135642492", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642492", "rev": "_inf5Asm--t" }, { "entType": "EvidenceCategory", "ldhId": "135642490", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642490", "rev": "_inf5Asm--r" }, { "entType": "EvidenceCategory", "ldhId": "135642486", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642486", "rev": "_inf5AsS--_" } ], "Gene": [ { "entId": "CDKL5", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11411", "entType": "Gene", "ldhId": "135641943", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/135641943", "rev": "_inf5A8----" }, { "entId": "SLC9A6", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11079", "entType": "Gene", "ldhId": "135641940", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/135641940", "rev": "_inf5A8S--C" }, { "entId": "UBE3A", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12496", "entType": "Gene", "ldhId": "135641941", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/135641941", "rev": "_inf5A8---H" }, { "entId": "MECP2", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6990", "entType": "Gene", "ldhId": "135641938", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/135641938", "rev": "_inf5A8---B" }, { "entId": "POLG", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9179", "entType": "Gene", "ldhId": "135641934", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/135641934", "rev": "_inf5A8S--F" }, { "entId": "FOXG1", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3811", "entType": "Gene", "ldhId": "135641939", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/135641939", "rev": "_inf5A8---A" }, { "entId": "SLC19A3", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16266", "entType": "Gene", "ldhId": "135641937", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/135641937", "rev": "_inf5A8---E" }, { "entId": "ETHE1", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23287", "entType": "Gene", "ldhId": "135641936", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/135641936", "rev": "_inf5A8---_" }, { "entId": "PDHA1", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8806", "entType": "Gene", "ldhId": "135641935", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/135641935", "rev": "_inf5A8---E" }, { "entId": "TCF4", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11634", "entType": "Gene", "ldhId": "135641942", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/135641942", "rev": "_inf5A8---F" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "135641175", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/135641175", "rev": "_inf5BHO--F" }, { "entType": "RuleSet", "ldhId": "135641174", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/135641174", "rev": "_inf5BHa--R" }, { "entType": "RuleSet", "ldhId": "135641176", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/135641176", "rev": "_inf5BHO--H" }, { "entType": "RuleSet", "ldhId": "135641173", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/135641173", "rev": "_inf5BHW--G" } ], "SequenceVariantInterpretation": [ { "entId": "GN030", "entType": "SequenceVariantInterpretation", "ldhId": "643243100", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243100", "rev": "_inf5BXW--F" }, { "entId": "GN029", "entType": "SequenceVariantInterpretation", "ldhId": "643243099", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243099", "rev": "_inf5BXW--C" }, { "entId": "GN031", "entType": "SequenceVariantInterpretation", "ldhId": "643243101", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243101", "rev": "_inf5BXe---" }, { "entId": "GN028", "entType": "SequenceVariantInterpretation", "ldhId": "643243098", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243098", "rev": "_inf5BXi--N" } ] }, "ldFor": { "Organization": [ { "entId": "50027", "entIri": "http://clinicalgenome.org/affiliation/50027", "entType": "Organization", "ldhId": "135637647", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/135637647", "rev": "_inf5B-2--A" } ], "SequenceVariantInterpretation": [ { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" } ] }, "ldhId": "135637587", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637587", "modified": "2023-09-29T15:16:47.661Z", "modifier": "cspecAdministrator", "rev": "_inf5BXO--C" }, { "entContent": { "approvedOn": "2020-04-30T00:00:00.000Z", "description": "This document contains one of the two sets of ACMG/AMP specifications from the ClinGen Mitochondrial Disease Nuclear and Mitochondrial Variant Curation Expert Panel", "namespace": "GN015", "shortTitle": "Mitochondrial Disease Nuclear and Mitochondrial Variant Interpretation Guidelines mtDNA", "specificationSource": "https://www.clinicalgenome.org/affiliation/50027/docs/assertion-criteria", "states": [ { "current": true, "event": { "name": "cspec-released", "prevState": "Approved For Release", "timeStamp": "2020-04-30T00:00:00.000Z" }, "name": "Released" } ], "tagNameSpaces": [ "015" ], "title": "ClinGen Mitochondrial Disease Nuclear and Mitochondrial Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1_mtDNA", "version": "1.0.0" }, "entId": "GN015", "entType": "SequenceVariantInterpretation", "ld": { "Assertion": [ { "entType": "Assertion", "ldhId": "135642236", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642236", "rev": "_inf5Alm--A" }, { "entType": "Assertion", "ldhId": "135642235", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642235", "rev": "_inf5Ale--_" }, { "entType": "Assertion", "ldhId": "135642234", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642234", "rev": "_inf5Ale--A" }, { "entType": "Assertion", "ldhId": "135642231", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642231", "rev": "_inf5Ale--_" }, { "entType": "Assertion", "ldhId": "135642237", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642237", "rev": "_inf5Alm--B" }, { "entType": "Assertion", "ldhId": "135642233", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642233", "rev": "_inf5Alm--_" }, { "entType": "Assertion", "ldhId": "135642232", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642232", "rev": "_inf5Ale---" } ], "CriteriaCode": [ { "entType": "CriteriaCode", "ldhId": "135638273", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638273", "rev": "_inf5Apy--f" }, { "entType": "CriteriaCode", "ldhId": "135638269", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638269", "rev": "_inf5Apq--C" }, { "entType": "CriteriaCode", "ldhId": "135638262", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638262", "rev": "_inf5Apq--A" }, { "entType": "CriteriaCode", "ldhId": "135638257", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638257", "rev": "_inf5Apm--E" }, { "entType": "CriteriaCode", "ldhId": "638433256", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/638433256", "rev": "_inf5Apy--X" }, { "entType": "CriteriaCode", "ldhId": "135638272", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638272", "rev": "_inf5Ape--k" }, { "entType": "CriteriaCode", "ldhId": "135638268", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638268", "rev": "_inf5Apa--N" }, { "entType": "CriteriaCode", "ldhId": "135638264", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638264", "rev": "_inf5Ap2--c" }, { "entType": "CriteriaCode", "ldhId": "135638261", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638261", "rev": "_inf5Ape--j" }, { "entType": "CriteriaCode", "ldhId": "135638256", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638256", "rev": "_inf5Apm--D" }, { "entType": "CriteriaCode", "ldhId": "135638274", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638274", "rev": "_inf5Apu--W" }, { "entType": "CriteriaCode", "ldhId": "135638271", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638271", "rev": "_inf5Ap2--e" }, { "entType": "CriteriaCode", "ldhId": "135638260", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638260", "rev": "_inf5Apy--e" }, { "entType": "CriteriaCode", "ldhId": "135638254", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638254", "rev": "_inf5Apu--V" }, { "entType": "CriteriaCode", "ldhId": "135638253", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638253", "rev": "_inf5Apm--C" }, { "entType": "CriteriaCode", "ldhId": "135638250", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638250", "rev": "_inf5Apy--d" }, { "entType": "CriteriaCode", "ldhId": "135638252", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638252", "rev": "_inf5Apm--B" }, { "entType": "CriteriaCode", "ldhId": "638433255", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/638433255", "rev": "_inf5Apm--g" }, { "entType": "CriteriaCode", "ldhId": "135638270", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638270", "rev": "_inf5Apy--b" }, { "entType": "CriteriaCode", "ldhId": "135638267", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638267", "rev": "_inf5Apy--a" }, { "entType": "CriteriaCode", "ldhId": "135638266", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638266", "rev": "_inf5Apq--B" }, { "entType": "CriteriaCode", "ldhId": "135638265", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638265", "rev": "_inf5Ap2--d" }, { "entType": "CriteriaCode", "ldhId": "135638263", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638263", "rev": "_inf5Apa--M" }, { "entType": "CriteriaCode", "ldhId": "135638259", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638259", "rev": "_inf5Apy--Z" }, { "entType": "CriteriaCode", "ldhId": "135638258", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638258", "rev": "_inf5Apm--F" }, { "entType": "CriteriaCode", "ldhId": "135638255", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638255", "rev": "_inf5Ap2--D" }, { "entType": "CriteriaCode", "ldhId": "135638251", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638251", "rev": "_inf5Apu--Q" }, { "entType": "CriteriaCode", "ldhId": "135638249", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638249", "rev": "_inf5Apu--U" } ], "EvidenceCategory": [ { "entType": "EvidenceCategory", "ldhId": "135642489", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642489", "rev": "_inf5Asm--o" }, { "entType": "EvidenceCategory", "ldhId": "135642488", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642488", "rev": "_inf5Asi--A" }, { "entType": "EvidenceCategory", "ldhId": "135642486", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642486", "rev": "_inf5AsS--_" }, { "entType": "EvidenceCategory", "ldhId": "135642490", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642490", "rev": "_inf5Asm--r" }, { "entType": "EvidenceCategory", "ldhId": "135642491", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642491", "rev": "_inf5Asi--B" }, { "entType": "EvidenceCategory", "ldhId": "135642492", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642492", "rev": "_inf5Asm--t" }, { "entType": "EvidenceCategory", "ldhId": "135642487", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642487", "rev": "_inf5Asi--_" }, { "entType": "EvidenceCategory", "ldhId": "135642485", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642485", "rev": "_inf5Asi---" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "135641398", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/135641398", "rev": "_inf5BHW--I" } ] }, "ldFor": { "Organization": [ { "entId": "50027", "entIri": "http://clinicalgenome.org/affiliation/50027", "entType": "Organization", "ldhId": "135637647", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/135637647", "rev": "_inf5B-2--A" } ], "SequenceVariantInterpretation": [ { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" } ] }, "ldhId": "135637588", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637588", "modified": "2023-09-29T15:16:47.750Z", "modifier": "cspecAdministrator", "rev": "_inf5BXe--O" }, { "entContent": { "approvedOn": "2021-12-31T00:00:00.000Z", "description": "", "hideFlag": true, "legacy": true, "legacyReplaced": true, "namespace": "GN016", "releaseNotes": "Modifications to PP3 and BP4 (in silico prediction criteria) that affect splice site prediction, including thresholds to use for splice site prediction in silico tools.", "shortTitle": "Rett and Angelman-like Disorders Variant Interpretation Guidelines", "specificationSource": "https://clinicalgenome.org/site/assets/files/7339/clingen_rettas_acmg_specifications_v2.pdf", "states": [ { "current": true, "event": { "name": "cspec-released", "prevState": "Approved For Release", "timeStamp": "2021-12-31T00:00:00.000Z" }, "name": "Released" } ], "tagNameSpaces": [ "016" ], "title": "ClinGen Rett and Angelman-like Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2", "version": "2.0.0", "versioned": true }, "entId": "GN016", "entType": "SequenceVariantInterpretation", "ld": { "Assertion": [ { "entType": "Assertion", "ldhId": "135642234", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642234", "rev": "_inf5Ale--A" }, { "entType": "Assertion", "ldhId": "135642232", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642232", "rev": "_inf5Ale---" }, { "entType": "Assertion", "ldhId": "135642236", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642236", "rev": "_inf5Alm--A" }, { "entType": "Assertion", "ldhId": "135642233", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642233", "rev": "_inf5Alm--_" }, { "entType": "Assertion", "ldhId": "135642235", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642235", "rev": "_inf5Ale--_" }, { "entType": "Assertion", "ldhId": "135642237", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642237", "rev": "_inf5Alm--B" }, { "entType": "Assertion", "ldhId": "135642231", "ldhIri": "https://cspec.genome.network/cspec/Assertion/id/135642231", "rev": "_inf5Ale--_" } ], "CriteriaCode": [ { "entType": "CriteriaCode", "ldhId": "638433393", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/638433393", "rev": "_inf5Ape--S" }, { "entType": "CriteriaCode", "ldhId": "638433366", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/638433366", "rev": "_inf5Ap2--L" }, { "entType": "CriteriaCode", "ldhId": "638433340", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/638433340", "rev": "_inf5Apm--i" }, { "entType": "CriteriaCode", "ldhId": "638433313", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/638433313", "rev": "_inf5Ape--R" }, { "entType": "CriteriaCode", "ldhId": "135638557", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638557", "rev": "_inf5Apq--e" }, { "entType": "CriteriaCode", "ldhId": "135638552", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638552", "rev": "_inf5Api--J" }, { "entType": "CriteriaCode", "ldhId": "135638550", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638550", "rev": "_inf5Ap6--K" }, { "entType": "CriteriaCode", "ldhId": "135638548", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638548", "rev": "_inf5Ap6--J" }, { "entType": "CriteriaCode", "ldhId": "135638547", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638547", "rev": "_inf5Apa--O" }, { "entType": "CriteriaCode", "ldhId": "135638543", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638543", "rev": "_inf5Ap2--f" }, { "entType": "CriteriaCode", "ldhId": "135638540", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638540", "rev": "_inf5Api--H" }, { "entType": "CriteriaCode", "ldhId": "135638535", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638535", "rev": "_inf5Ap6--G" }, { "entType": "CriteriaCode", "ldhId": "135638526", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638526", "rev": "_inf5Apq--X" }, { "entType": "CriteriaCode", "ldhId": "135638522", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638522", "rev": "_inf5Ap2--_" }, { "entType": "CriteriaCode", "ldhId": "135638514", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638514", "rev": "_inf5Apq--W" }, { "entType": "CriteriaCode", "ldhId": "135638508", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638508", "rev": "_inf5Api--B" }, { "entType": "CriteriaCode", "ldhId": "135638503", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638503", "rev": "_inf5Api--A" }, { "entType": "CriteriaCode", "ldhId": "135638502", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638502", "rev": "_inf5Api--_" }, { "entType": "CriteriaCode", "ldhId": "135638501", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638501", "rev": "_inf5Ap2--Y" }, { "entType": "CriteriaCode", "ldhId": "135638478", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638478", "rev": "_inf5Ap2--U" }, { "entType": "CriteriaCode", "ldhId": "135638475", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638475", "rev": "_inf5Apq--O" }, { "entType": "CriteriaCode", "ldhId": "135638472", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638472", "rev": "_inf5Apy--w" }, { "entType": "CriteriaCode", "ldhId": "135638471", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638471", "rev": "_inf5Apq--M" }, { "entType": "CriteriaCode", "ldhId": "135638462", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638462", "rev": "_inf5Ape--q" }, { "entType": "CriteriaCode", "ldhId": "135638454", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638454", "rev": "_inf5Apy--q" }, { "entType": "CriteriaCode", "ldhId": "135638446", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638446", "rev": "_inf5Ape--o" }, { "entType": "CriteriaCode", "ldhId": "135638436", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638436", "rev": "_inf5Apy--m" }, { "entType": "CriteriaCode", "ldhId": "135638432", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638432", "rev": "_inf5Ape--n" }, { "entType": "CriteriaCode", "ldhId": "135638424", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638424", "rev": "_inf5Apy--i" }, { "entType": "CriteriaCode", "ldhId": "135638561", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638561", "rev": "_inf5Ap2--F" }, { "entType": "CriteriaCode", "ldhId": "135638555", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638555", "rev": "_inf5Ap2--h" }, { "entType": "CriteriaCode", "ldhId": "135638545", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638545", "rev": "_inf5Ap6--I" }, { "entType": "CriteriaCode", "ldhId": "135638544", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638544", "rev": "_inf5Apq--a" }, { "entType": "CriteriaCode", "ldhId": "135638539", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638539", "rev": "_inf5Ap2--D" }, { "entType": "CriteriaCode", "ldhId": "135638536", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638536", "rev": "_inf5Apq--Z" }, { "entType": "CriteriaCode", "ldhId": "135638534", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638534", "rev": "_inf5Ap2--d" }, { "entType": "CriteriaCode", "ldhId": "135638532", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638532", "rev": "_inf5Ap2--c" }, { "entType": "CriteriaCode", "ldhId": "135638529", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638529", "rev": "_inf5Ap2--B" }, { "entType": "CriteriaCode", "ldhId": "135638520", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638520", "rev": "_inf5Api--E" }, { "entType": "CriteriaCode", "ldhId": "135638510", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638510", "rev": "_inf5Apy--5" }, { "entType": "CriteriaCode", "ldhId": "135638509", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638509", "rev": "_inf5Apq--V" }, { "entType": "CriteriaCode", "ldhId": "135638506", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638506", "rev": "_inf5Ap6--A" }, { "entType": "CriteriaCode", "ldhId": "135638505", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638505", "rev": "_inf5Apy--3" }, { "entType": "CriteriaCode", "ldhId": "135638504", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638504", "rev": "_inf5Ap6---" }, { "entType": "CriteriaCode", "ldhId": "135638498", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638498", "rev": "_inf5Apy--1" }, { "entType": "CriteriaCode", "ldhId": "135638497", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638497", "rev": "_inf5Apy--0" }, { "entType": "CriteriaCode", "ldhId": "135638495", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638495", "rev": "_inf5Apy--c" }, { "entType": "CriteriaCode", "ldhId": "135638494", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638494", "rev": "_inf5Apy--z" }, { "entType": "CriteriaCode", "ldhId": "135638490", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638490", "rev": "_inf5Ape--x" }, { "entType": "CriteriaCode", "ldhId": "135638487", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638487", "rev": "_inf5Apq--R" }, { "entType": "CriteriaCode", "ldhId": "135638486", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638486", "rev": "_inf5Ape--w" }, { "entType": "CriteriaCode", "ldhId": "135638483", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638483", "rev": "_inf5Ap2--V" }, { "entType": "CriteriaCode", "ldhId": "135638477", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638477", "rev": "_inf5Apq--Q" }, { "entType": "CriteriaCode", "ldhId": "135638474", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638474", "rev": "_inf5Apq--N" }, { "entType": "CriteriaCode", "ldhId": "135638461", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638461", "rev": "_inf5Apq--K" }, { "entType": "CriteriaCode", "ldhId": "135638459", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638459", "rev": "_inf5Ap2--o" }, { "entType": "CriteriaCode", "ldhId": "135638456", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638456", "rev": "_inf5Apy--s" }, { "entType": "CriteriaCode", "ldhId": "135638452", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638452", "rev": "_inf5Apq--I" }, { "entType": "CriteriaCode", "ldhId": "135638450", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638450", "rev": "_inf5Ape--p" }, { "entType": "CriteriaCode", "ldhId": "135638438", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638438", "rev": "_inf5Ap2--K" }, { "entType": "CriteriaCode", "ldhId": "135638435", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638435", "rev": "_inf5Ap2--l" }, { "entType": "CriteriaCode", "ldhId": "135638431", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638431", "rev": "_inf5Apy--l" }, { "entType": "CriteriaCode", "ldhId": "135638415", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638415", "rev": "_inf5Ape--l" }, { "entType": "CriteriaCode", "ldhId": "135638412", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638412", "rev": "_inf5Ap2--f" }, { "entType": "CriteriaCode", "ldhId": "638433420", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/638433420", "rev": "_inf5Apy--a" }, { "entType": "CriteriaCode", "ldhId": "638433367", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/638433367", "rev": "_inf5Apm--j" }, { "entType": "CriteriaCode", "ldhId": "638433339", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/638433339", "rev": "_inf5Apy--P" }, { "entType": "CriteriaCode", "ldhId": "638433286", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/638433286", "rev": "_inf5Apy--Y" }, { "entType": "CriteriaCode", "ldhId": "135638558", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638558", "rev": "_inf5Ap6--L" }, { "entType": "CriteriaCode", "ldhId": "135638554", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638554", "rev": "_inf5Api--K" }, { "entType": "CriteriaCode", "ldhId": "135638553", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638553", "rev": "_inf5Ap2--g" }, { "entType": "CriteriaCode", "ldhId": "135638551", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638551", "rev": "_inf5Apq--c" }, { "entType": "CriteriaCode", "ldhId": "135638546", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638546", "rev": "_inf5Apq--b" }, { "entType": "CriteriaCode", "ldhId": "135638538", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638538", "rev": "_inf5Ap2--e" }, { "entType": "CriteriaCode", "ldhId": "135638537", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638537", "rev": "_inf5Api--G" }, { "entType": "CriteriaCode", "ldhId": "135638533", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638533", "rev": "_inf5Api--F" }, { "entType": "CriteriaCode", "ldhId": "135638523", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638523", "rev": "_inf5Ap2--a" }, { "entType": "CriteriaCode", "ldhId": "135638519", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638519", "rev": "_inf5Ap6--D" }, { "entType": "CriteriaCode", "ldhId": "135638518", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638518", "rev": "_inf5Api--D" }, { "entType": "CriteriaCode", "ldhId": "135638507", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638507", "rev": "_inf5Apy--4" }, { "entType": "CriteriaCode", "ldhId": "135638500", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638500", "rev": "_inf5Apy--2" }, { "entType": "CriteriaCode", "ldhId": "135638499", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638499", "rev": "_inf5Api---" }, { "entType": "CriteriaCode", "ldhId": "135638496", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638496", "rev": "_inf5Ap2--X" }, { "entType": "CriteriaCode", "ldhId": "135638491", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638491", "rev": "_inf5Ap2--W" }, { "entType": "CriteriaCode", "ldhId": "135638485", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638485", "rev": "_inf5Apy--y" }, { "entType": "CriteriaCode", "ldhId": "135638484", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638484", "rev": "_inf5Ape--v" }, { "entType": "CriteriaCode", "ldhId": "135638482", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638482", "rev": "_inf5Apy--x" }, { "entType": "CriteriaCode", "ldhId": "135638470", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638470", "rev": "_inf5Ap2--S" }, { "entType": "CriteriaCode", "ldhId": "135638469", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638469", "rev": "_inf5Apu--X" }, { "entType": "CriteriaCode", "ldhId": "135638465", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638465", "rev": "_inf5Ape--r" }, { "entType": "CriteriaCode", "ldhId": "135638445", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638445", "rev": "_inf5Ap2--M" }, { "entType": "CriteriaCode", "ldhId": "135638444", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638444", "rev": "_inf5Ap2--L" }, { "entType": "CriteriaCode", "ldhId": "135638443", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638443", "rev": "_inf5Apm--H" }, { "entType": "CriteriaCode", "ldhId": "135638440", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638440", "rev": "_inf5Apq--G" }, { "entType": "CriteriaCode", "ldhId": "135638439", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638439", "rev": "_inf5Ap2--m" }, { "entType": "CriteriaCode", "ldhId": "135638437", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638437", "rev": "_inf5Ap2--J" }, { "entType": "CriteriaCode", "ldhId": "135638433", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638433", "rev": "_inf5Ap2--I" }, { "entType": "CriteriaCode", "ldhId": "135638426", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638426", "rev": "_inf5Apq--E" }, { "entType": "CriteriaCode", "ldhId": "135638416", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638416", "rev": "_inf5Ape--m" }, { "entType": "CriteriaCode", "ldhId": "135638414", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638414", "rev": "_inf5Ap2--g" }, { "entType": "CriteriaCode", "ldhId": "135638413", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638413", "rev": "_inf5Apq--D" }, { "entType": "CriteriaCode", "ldhId": "638433312", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/638433312", "rev": "_inf5Apm--h" }, { "entType": "CriteriaCode", "ldhId": "135638562", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638562", "rev": "_inf5Ap2--j" }, { "entType": "CriteriaCode", "ldhId": "135638560", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638560", "rev": "_inf5Ap6--M" }, { "entType": "CriteriaCode", "ldhId": "135638559", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638559", "rev": "_inf5Ap2--i" }, { "entType": "CriteriaCode", "ldhId": "135638549", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638549", "rev": "_inf5Api--I" }, { "entType": "CriteriaCode", "ldhId": "135638531", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638531", "rev": "_inf5Ap2--b" }, { "entType": "CriteriaCode", "ldhId": "135638530", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638530", "rev": "_inf5Ap2--C" }, { "entType": "CriteriaCode", "ldhId": "135638528", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638528", "rev": "_inf5Ap2--A" }, { "entType": "CriteriaCode", "ldhId": "135638517", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638517", "rev": "_inf5Ap2---" }, { "entType": "CriteriaCode", "ldhId": "135638516", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638516", "rev": "_inf5Apy--6" }, { "entType": "CriteriaCode", "ldhId": "135638515", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638515", "rev": "_inf5Ap6--C" }, { "entType": "CriteriaCode", "ldhId": "135638513", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638513", "rev": "_inf5Api--C" }, { "entType": "CriteriaCode", "ldhId": "135638512", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638512", "rev": "_inf5Ap2--Z" }, { "entType": "CriteriaCode", "ldhId": "135638511", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638511", "rev": "_inf5Ap6--B" }, { "entType": "CriteriaCode", "ldhId": "135638493", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638493", "rev": "_inf5Ape--y" }, { "entType": "CriteriaCode", "ldhId": "135638492", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638492", "rev": "_inf5Apq--U" }, { "entType": "CriteriaCode", "ldhId": "135638488", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638488", "rev": "_inf5Apq--S" }, { "entType": "CriteriaCode", "ldhId": "135638480", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638480", "rev": "_inf5Ape--u" }, { "entType": "CriteriaCode", "ldhId": "135638473", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638473", "rev": "_inf5Ap2--T" }, { "entType": "CriteriaCode", "ldhId": "135638468", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638468", "rev": "_inf5Apq--L" }, { "entType": "CriteriaCode", "ldhId": "135638466", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638466", "rev": "_inf5Ape--s" }, { "entType": "CriteriaCode", "ldhId": "135638464", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638464", "rev": "_inf5Apy--u" }, { "entType": "CriteriaCode", "ldhId": "135638463", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638463", "rev": "_inf5Ap2--Q" }, { "entType": "CriteriaCode", "ldhId": "135638460", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638460", "rev": "_inf5Apy--t" }, { "entType": "CriteriaCode", "ldhId": "135638458", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638458", "rev": "_inf5Apq--J" }, { "entType": "CriteriaCode", "ldhId": "135638457", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638457", "rev": "_inf5Ap2--n" }, { "entType": "CriteriaCode", "ldhId": "135638453", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638453", "rev": "_inf5Apy--p" }, { "entType": "CriteriaCode", "ldhId": "135638447", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638447", "rev": "_inf5Ap2--N" }, { "entType": "CriteriaCode", "ldhId": "135638442", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638442", "rev": "_inf5Apy--n" }, { "entType": "CriteriaCode", "ldhId": "135638430", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638430", "rev": "_inf5Apy--k" }, { "entType": "CriteriaCode", "ldhId": "135638427", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638427", "rev": "_inf5Ap2--H" }, { "entType": "CriteriaCode", "ldhId": "135638421", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638421", "rev": "_inf5Ap2--h" }, { "entType": "CriteriaCode", "ldhId": "135638419", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638419", "rev": "_inf5Apy--h" }, { "entType": "CriteriaCode", "ldhId": "135638418", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638418", "rev": "_inf5Apy--g" }, { "entType": "CriteriaCode", "ldhId": "135638417", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638417", "rev": "_inf5Apm--G" }, { "entType": "CriteriaCode", "ldhId": "135638411", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638411", "rev": "_inf5Ap2--E" }, { "entType": "CriteriaCode", "ldhId": "638433421", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/638433421", "rev": "_inf5Apy--Q" }, { "entType": "CriteriaCode", "ldhId": "638433394", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/638433394", "rev": "_inf5Apy--Z" }, { "entType": "CriteriaCode", "ldhId": "638433285", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/638433285", "rev": "_inf5Apy--O" }, { "entType": "CriteriaCode", "ldhId": "135638566", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638566", "rev": "_inf5Ap6--N" }, { "entType": "CriteriaCode", "ldhId": "135638565", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638565", "rev": "_inf5Ap2--G" }, { "entType": "CriteriaCode", "ldhId": "135638564", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638564", "rev": "_inf5Api--M" }, { "entType": "CriteriaCode", "ldhId": "135638563", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638563", "rev": "_inf5Ap2--k" }, { "entType": "CriteriaCode", "ldhId": "135638556", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638556", "rev": "_inf5Apq--d" }, { "entType": "CriteriaCode", "ldhId": "135638542", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638542", "rev": "_inf5Ap6--H" }, { "entType": "CriteriaCode", "ldhId": "135638541", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638541", "rev": "_inf5Ap2--E" }, { "entType": "CriteriaCode", "ldhId": "135638527", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638527", "rev": "_inf5Apq--Y" }, { "entType": "CriteriaCode", "ldhId": "135638525", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638525", "rev": "_inf5Ap6--F" }, { "entType": "CriteriaCode", "ldhId": "135638524", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638524", "rev": "_inf5Ap6--E" }, { "entType": "CriteriaCode", "ldhId": "135638521", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638521", "rev": "_inf5Apy--d" }, { "entType": "CriteriaCode", "ldhId": "135638489", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638489", "rev": "_inf5Apq--T" }, { "entType": "CriteriaCode", "ldhId": "135638481", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638481", "rev": "_inf5Ap2--p" }, { "entType": "CriteriaCode", "ldhId": "135638479", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638479", "rev": "_inf5Ape--t" }, { "entType": "CriteriaCode", "ldhId": "135638476", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638476", "rev": "_inf5Apq--P" }, { "entType": "CriteriaCode", "ldhId": "135638467", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638467", "rev": "_inf5Apy--v" }, { "entType": "CriteriaCode", "ldhId": "135638455", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638455", "rev": "_inf5Apy--r" }, { "entType": "CriteriaCode", "ldhId": "135638451", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638451", "rev": "_inf5Ap2--P" }, { "entType": "CriteriaCode", "ldhId": "135638449", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638449", "rev": "_inf5Ap2--O" }, { "entType": "CriteriaCode", "ldhId": "135638448", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638448", "rev": "_inf5Apy--o" }, { "entType": "CriteriaCode", "ldhId": "135638441", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638441", "rev": "_inf5Apq--H" }, { "entType": "CriteriaCode", "ldhId": "135638434", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638434", "rev": "_inf5Ap2--k" }, { "entType": "CriteriaCode", "ldhId": "135638429", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638429", "rev": "_inf5Apq--F" }, { "entType": "CriteriaCode", "ldhId": "135638428", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638428", "rev": "_inf5Apy--j" }, { "entType": "CriteriaCode", "ldhId": "135638425", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638425", "rev": "_inf5Ap2--j" }, { "entType": "CriteriaCode", "ldhId": "135638423", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638423", "rev": "_inf5Ap2--G" }, { "entType": "CriteriaCode", "ldhId": "135638422", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638422", "rev": "_inf5Ap2--i" }, { "entType": "CriteriaCode", "ldhId": "135638420", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/135638420", "rev": "_inf5Ap2--F" } ], "Disease": [ { "entId": "MONDO:0100039", "entIri": "http://purl.obolibrary.org/obo/MONDO_0100039", "entType": "Disease", "ldhId": "135642215", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642215", "rev": "_kZ7z34W---" }, { "entId": "MONDO:0012589", "entIri": "http://purl.obolibrary.org/obo/MONDO_0012589", "entType": "Disease", "ldhId": "135642214", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642214", "rev": "_kZ7xJ0q---" }, { "entId": "MONDO:0007113", "entIri": "http://purl.obolibrary.org/obo/MONDO_0007113", "entType": "Disease", "ldhId": "135642213", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642213", "rev": "_kZ7wCmC---" }, { "entId": "MONDO:0010278", "entIri": "http://purl.obolibrary.org/obo/MONDO_0010278", "entType": "Disease", "ldhId": "135642212", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642212", "rev": "_kZ7wq1K---" }, { "entId": "MONDO:0010726", "entIri": "http://purl.obolibrary.org/obo/MONDO_0010726", "entType": "Disease", "ldhId": "135642210", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642210", "rev": "_kZ7wxhG---" }, { "entId": "MONDO:0100040", "entIri": "http://purl.obolibrary.org/obo/MONDO_0100040", "entType": "Disease", "ldhId": "135642211", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642211", "rev": "_kZ7z34i---" } ], "EvidenceCategory": [ { "entType": "EvidenceCategory", "ldhId": "135642489", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642489", "rev": "_inf5Asm--o" }, { "entType": "EvidenceCategory", "ldhId": "135642490", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642490", "rev": "_inf5Asm--r" }, { "entType": "EvidenceCategory", "ldhId": "135642487", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642487", "rev": "_inf5Asi--_" }, { "entType": "EvidenceCategory", "ldhId": "135642486", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642486", "rev": "_inf5AsS--_" }, { "entType": "EvidenceCategory", "ldhId": "135642492", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642492", "rev": "_inf5Asm--t" }, { "entType": "EvidenceCategory", "ldhId": "135642491", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642491", "rev": "_inf5Asi--B" }, { "entType": "EvidenceCategory", "ldhId": "135642488", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642488", "rev": "_inf5Asi--A" }, { "entType": "EvidenceCategory", "ldhId": "135642485", "ldhIri": "https://cspec.genome.network/cspec/EvidenceCategory/id/135642485", "rev": "_inf5Asi---" } ], "Gene": [ { "entId": "ETHE1", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23287", "entType": "Gene", "ldhId": "135641936", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/135641936", "rev": "_inf5A8---_" }, { "entId": "PDHA1", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8806", "entType": "Gene", "ldhId": "135641935", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/135641935", "rev": "_inf5A8---E" }, { "entId": "POLG", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9179", "entType": "Gene", "ldhId": "135641934", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/135641934", "rev": "_inf5A8S--F" }, { "entId": "CDKL5", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11411", "entType": "Gene", "ldhId": "135641943", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/135641943", "rev": "_inf5A8----" }, { "entId": "SLC9A6", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11079", "entType": "Gene", "ldhId": "135641940", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/135641940", "rev": "_inf5A8S--C" }, { "entId": "UBE3A", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12496", "entType": "Gene", "ldhId": "135641941", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/135641941", "rev": "_inf5A8---H" }, { "entId": "MECP2", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6990", "entType": "Gene", "ldhId": "135641938", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/135641938", "rev": "_inf5A8---B" }, { "entId": "TCF4", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11634", "entType": "Gene", "ldhId": "135641942", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/135641942", "rev": "_inf5A8---F" }, { "entId": "FOXG1", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3811", "entType": "Gene", "ldhId": "135641939", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/135641939", "rev": "_inf5A8---A" }, { "entId": "SLC19A3", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16266", "entType": "Gene", "ldhId": "135641937", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/135641937", "rev": "_inf5A8---E" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "135641463", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/135641463", "rev": "_inf5BHW--O" }, { "entType": "RuleSet", "ldhId": "135641462", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/135641462", "rev": "_inf5BHa--U" }, { "entType": "RuleSet", "ldhId": "135641460", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/135641460", "rev": "_inf5BHW--J" }, { "entType": "RuleSet", "ldhId": "135641459", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/135641459", "rev": "_inf5BHa--T" }, { "entType": "RuleSet", "ldhId": "135641458", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/135641458", "rev": "_inf5BHO--J" }, { "entType": "RuleSet", "ldhId": "135641461", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/135641461", "rev": "_inf5BHO--K" } ], "SequenceVariantInterpretation": [ { "entId": "GN035", "entType": "SequenceVariantInterpretation", "ldhId": "643243105", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243105", "rev": "_lbVa3dK---" }, { "entId": "GN033", "entType": "SequenceVariantInterpretation", "ldhId": "643243103", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243103", "rev": "_lbVbPsq---" }, { "entId": "GN032", "entType": "SequenceVariantInterpretation", "ldhId": "643243102", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243102", "rev": "_lbVblsu---" }, { "entId": "GN037", "entType": "SequenceVariantInterpretation", "ldhId": "643243107", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243107", "rev": "_lbVaYha---" }, { "entId": "GN034", "entType": "SequenceVariantInterpretation", "ldhId": "643243104", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243104", "rev": "_lbVbCGO---" }, { "entId": "GN036", "entType": "SequenceVariantInterpretation", "ldhId": "643243106", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243106", "rev": "_lbVasMe---" } ] }, "ldFor": { "Organization": [ { "entId": "50022", "entIri": "http://clinicalgenome.org/affiliation/50022", "entType": "Organization", "ldhId": "135637643", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/135637643", "rev": "_inf5B_G--W" } ], "SequenceVariantInterpretation": [ { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" } ] }, "ldhId": "135637589", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637589", "modified": "2023-09-29T15:16:47.877Z", "modifier": "cspecAdministrator", "rev": "_inf5BXi--V" }, { "entContent": { "approvedOn": "2025-10-10T18:20:25.421Z", "description": "This version specified for the following genes: HNF1A", "namespace": "GN017", "releaseNotes": "Updating PS2 to clarify when a family history of diabetes prevents the application of this criterion.\n\nMinor edits for clarity and avoiding redundancy in the specifications.\n\nUpdating citations so reference list populates.", "shortTitle": "Monogenic Diabetes Specification", "specificationSource": "", "states": [ { "current": true, "event": { "modifiedBy": "cjodarski", "name": "cspec-released", "prevState": "Approved For Release", "timeStamp": "2025-10-10T18:20:25.421Z" }, "name": "Released" }, { "current": false, "event": { "modifiedBy": "cjodarski", "name": "cspec-reopened", "prevState": "Released", "timeStamp": "2025-08-29T17:55:06.658Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "cjodarski", "name": "pilot-rules-submitted", "prevState": "Pilot Rules In Prep", "timeStamp": "2025-09-19T17:56:01.049Z" }, "name": "Pilot Rules Submitted" }, { "current": false, "event": { "modifiedBy": "sharriso", "name": "pilot-rules-approved", "prevState": "Pilot Rules Submitted", "timeStamp": "2025-10-10T16:16:48.892Z" }, "name": "Approved For Release" }, { "current": false, "event": { "modifiedBy": "tonipollin", "name": "pilot-rules-withdrawn", "prevState": "Pilot Rules Submitted", "timeStamp": "2025-09-12T17:12:29.517Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "mrichardson", "name": "pilot-rules-reviewed", "prevState": "Pilot Rules Submitted", "timeStamp": "2025-06-29T18:45:57.787Z" }, "name": "Pilot Rules In Prep" } ], "tagNameSpaces": [ "017" ], "title": "ClinGen Monogenic Diabetes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for HNF1A Version 3.1.0", "type": "Richards et.al., 2015 - Combining rules", "version": "3.1.0", "versioned": true }, "entId": "GN017", "entType": "SequenceVariantInterpretation", "ld": { "CriteriaCode": [ { "entType": "CriteriaCode", "ldhId": "467903888", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/467903888", "rev": "_ka7YReC---" }, { "entType": "CriteriaCode", "ldhId": "467903886", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/467903886", "rev": "_ka7YRlO---" }, { "entType": "CriteriaCode", "ldhId": "467903883", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/467903883", "rev": "_ka7YRf----" }, { "entType": "CriteriaCode", "ldhId": "467903877", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/467903877", "rev": "_ka7YRk2---" }, { "entType": "CriteriaCode", "ldhId": "467903872", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/467903872", "rev": "_ka7YRkS---" }, { "entType": "CriteriaCode", "ldhId": "467903893", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/467903893", "rev": "_ka7YRci---" }, { "entType": "CriteriaCode", "ldhId": "467903884", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/467903884", "rev": "_ka7YRee---" }, { "entType": "CriteriaCode", "ldhId": "467903880", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/467903880", "rev": "_ka7YRjy---" }, { "entType": "CriteriaCode", "ldhId": "467903897", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/467903897", "rev": "_ka7YRhu---" }, { "entType": "CriteriaCode", "ldhId": "467903895", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/467903895", "rev": "_ka7YRfq---" }, { "entType": "CriteriaCode", "ldhId": "467903891", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/467903891", "rev": "_ka7YRki---" }, { "entType": "CriteriaCode", "ldhId": "467903876", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/467903876", "rev": "_ka7YRgC---" }, { "entType": "CriteriaCode", "ldhId": "467903874", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/467903874", "rev": "_ka7YRiq---" }, { "entType": "CriteriaCode", "ldhId": "638433450", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/638433450", "rev": "_ka7YRl6---" }, { "entType": "CriteriaCode", "ldhId": "467903896", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/467903896", "rev": "_ka7YRfW---" }, { "entType": "CriteriaCode", "ldhId": "467903894", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/467903894", "rev": "_ka7YRlq---" }, { "entType": "CriteriaCode", "ldhId": "467903892", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/467903892", "rev": "_ka7YRiW---" }, { "entType": "CriteriaCode", "ldhId": "467903890", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/467903890", "rev": "_ka7YReu---" }, { "entType": "CriteriaCode", "ldhId": "467903885", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/467903885", "rev": "_ka7YRc6---" }, { "entType": "CriteriaCode", "ldhId": "467903879", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/467903879", "rev": "_ka7YRga---" }, { "entType": "CriteriaCode", "ldhId": "467903878", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/467903878", "rev": "_ka7YRdO---" }, { "entType": "CriteriaCode", "ldhId": "638433451", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/638433451", "rev": "_ka7YRi----" }, { "entType": "CriteriaCode", "ldhId": "467903889", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/467903889", "rev": "_ka7YRgy---" }, { "entType": "CriteriaCode", "ldhId": "467903887", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/467903887", "rev": "_ka7YRhW---" }, { "entType": "CriteriaCode", "ldhId": "467903882", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/467903882", "rev": "_ka7YRhG---" }, { "entType": "CriteriaCode", "ldhId": "467903881", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/467903881", "rev": "_ka7YRjC---" }, { "entType": "CriteriaCode", "ldhId": "467903875", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/467903875", "rev": "_ka7YRdu---" }, { "entType": "CriteriaCode", "ldhId": "467903873", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/467903873", "rev": "_ka7YRja---" } ], "Disease": [ { "entId": "MONDO:0015967", "entIri": "http://purl.obolibrary.org/obo/MONDO_0015967", "entType": "Disease", "ldhId": "467884025", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/467884025", "rev": "_kZ7x3Hu---" } ], "Gene": [ { "entId": "HNF1A", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11621", "entType": "Gene", "ldhId": "467829599", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/467829599", "rev": "_inf5BYG--t" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "467903870", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/467903870", "rev": "_ka7YRWe---" } ] }, "ldFor": { "Organization": [ { "entId": "50016", "entIri": "http://clinicalgenome.org/affiliation/50016", "entType": "Organization", "ldhId": "135637640", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/135637640", "rev": "_inf5B_---A" } ], "SequenceVariantInterpretation": [ { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" } ] }, "ldhId": "467903868", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/467903868", "modified": "2025-10-10T18:20:25.733Z", "modifier": "cjodarski", "rev": "_ka7YRPu---" }, { "entContent": { "approvedOn": "2022-08-19T00:00:00.000Z", "description": "This version is specified for the following genes: AKT3, MTOR, PIK3CA, PIK3R2", "hideFlag": false, "legacy": true, "legacyReplaced": false, "namespace": "GN018", "releaseNotes": "The following criteria descriptions were modified for clarity based on feedback:\n\n* PS2 modified to make the distinction between PS2\\_strong vs PS2\\_moderate more clear and provide an example within the text\n* PS3 modified so it is clear the supplementary document applies to the SVI recommendation and not the animal model section\n* PS4’s upper margins were modified to make it clear that curators should not round off any of the values in Table 2A since it is not possible to obtain a value that is .99 or .49\n* BA1 and BS1 calculations corrected, rational provided in supplement\n* BS2 modified to make it clear that either homozygous instances in gnomAD or phenotyped family members can be utilized for this criterion\n* BP2 modified to indicate that this criterion can be used for either a cis or trans variant\n* BP4 modified to be consistent with detailed description provided later in the document", "shortTitle": "Brain Malformations Specification", "specificationSource": "https://clinicalgenome.org/docs/clingen-brain-malformations-expert-panel-specifications-to-the-acmg-amp-variant-interpretation-guidelines-version-1.1/", "states": [ { "current": true, "event": { "name": "cspec-released", "prevState": "Approved For Release", "timeStamp": "2022-08-19T00:00:00.000Z" }, "name": "Released" } ], "tagNameSpaces": [ "018" ], "title": "ClinGen Brain Malformations Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1.1.0", "version": "1.1.0" }, "entId": "GN018", "entType": "SequenceVariantInterpretation", "ld": { "CriteriaCode": [ { "entType": "CriteriaCode", "ldhId": "467907162", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/467907162", "rev": "_inf5Api--N" }, { "entType": "CriteriaCode", "ldhId": "467907180", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/467907180", "rev": "_inf5Ap6--P" }, { "entType": "CriteriaCode", "ldhId": "467907178", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/467907178", "rev": "_inf5Apu--f" }, { "entType": "CriteriaCode", "ldhId": "467907163", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/467907163", "rev": "_inf5Apm--U" }, { "entType": "CriteriaCode", "ldhId": "467907175", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/467907175", "rev": "_inf5Api--Q" }, { "entType": "CriteriaCode", "ldhId": "467907174", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/467907174", "rev": "_inf5Apq--g" }, { "entType": "CriteriaCode", "ldhId": "467907166", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/467907166", "rev": "_inf5Ap2--H" }, { "entType": "CriteriaCode", "ldhId": "467907165", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/467907165", "rev": "_inf5Aq---P" }, { "entType": "CriteriaCode", "ldhId": "467907161", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/467907161", "rev": "_inf5Ap6---" }, { "entType": "CriteriaCode", "ldhId": "638433481", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/638433481", "rev": "_inf5Apy--c" }, { "entType": "CriteriaCode", "ldhId": "467907186", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/467907186", "rev": "_inf5Apm--I" }, { "entType": "CriteriaCode", "ldhId": "467907185", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/467907185", "rev": "_inf5Ap6--C" }, { "entType": "CriteriaCode", "ldhId": "467907184", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/467907184", "rev": "_inf5Aq---R" }, { "entType": "CriteriaCode", "ldhId": "467907183", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/467907183", "rev": "_inf5Apq--h" }, { "entType": "CriteriaCode", "ldhId": "467907182", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/467907182", "rev": "_inf5Aq---Q" }, { "entType": "CriteriaCode", "ldhId": "467907181", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/467907181", "rev": "_inf5Ap6--B" }, { "entType": "CriteriaCode", "ldhId": "467907179", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/467907179", "rev": "_inf5Ap6--A" }, { "entType": "CriteriaCode", "ldhId": "467907176", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/467907176", "rev": "_inf5Ap6--D" }, { "entType": "CriteriaCode", "ldhId": "467907173", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/467907173", "rev": "_inf5Api--P" }, { "entType": "CriteriaCode", "ldhId": "467907172", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/467907172", "rev": "_inf5Apq--f" }, { "entType": "CriteriaCode", "ldhId": "467907170", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/467907170", "rev": "_inf5Ap6--O" }, { "entType": "CriteriaCode", "ldhId": "467907169", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/467907169", "rev": "_inf5Api--O" }, { "entType": "CriteriaCode", "ldhId": "467907168", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/467907168", "rev": "_inf5Ap2--J" }, { "entType": "CriteriaCode", "ldhId": "467907167", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/467907167", "rev": "_inf5Ap2--I" }, { "entType": "CriteriaCode", "ldhId": "467907164", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/467907164", "rev": "_inf5Aq---O" }, { "entType": "CriteriaCode", "ldhId": "638433480", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/638433480", "rev": "_inf5Apy--b" }, { "entType": "CriteriaCode", "ldhId": "467907177", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/467907177", "rev": "_inf5Apu--e" }, { "entType": "CriteriaCode", "ldhId": "467907171", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/467907171", "rev": "_inf5Ap6--_" } ], "Disease": [ { "entId": "MONDO:0016054", "entIri": "http://purl.obolibrary.org/obo/MONDO_0016054", "entType": "Disease", "ldhId": "467882125", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/467882125", "rev": "_kZ7x4by---" } ], "Gene": [ { "entId": "AKT3", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:393", "entType": "Gene", "ldhId": "467816839", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/467816839", "rev": "_inf5A8O--T" }, { "entId": "PIK3R2", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8980", "entType": "Gene", "ldhId": "467845253", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/467845253", "rev": "_inf5B0q--j" }, { "entId": "PIK3CA", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8975", "entType": "Gene", "ldhId": "467845243", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/467845243", "rev": "_inf5B0q--N" }, { "entId": "MTOR", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3942", "entType": "Gene", "ldhId": "467840946", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/467840946", "rev": "_inf5Bs---n" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "467907154", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/467907154", "rev": "_inf5BHa--G" } ], "SequenceVariantInterpretation": [ { "entId": "GN064", "entType": "SequenceVariantInterpretation", "ldhId": "643243134", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243134", "rev": "_inf5BXi--P" }, { "entId": "GN062", "entType": "SequenceVariantInterpretation", "ldhId": "643243132", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243132", "rev": "_inf5BXe--E" }, { "entId": "GN061", "entType": "SequenceVariantInterpretation", "ldhId": "643243131", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243131", "rev": "_inf5BXW--L" }, { "entId": "GN063", "entType": "SequenceVariantInterpretation", "ldhId": "643243133", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243133", "rev": "_inf5BXW--N" } ] }, "ldFor": { "Organization": [ { "entId": "50020", "entIri": "http://clinicalgenome.org/affiliation/50020", "entType": "Organization", "ldhId": "135637641", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/135637641", "rev": "_inf5B_G--B" } ], "SequenceVariantInterpretation": [ { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" } ] }, "ldhId": "467907148", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/467907148", "modified": "2023-09-29T15:16:48.138Z", "modifier": "cspecAdministrator", "rev": "_inf5BXe--P" }, { "entContent": { "approvedOn": "2025-11-06T00:01:50.479Z", "description": "Minor changes:\n1. Added additional combinations to reach PM5_Strong\n2. Updated the Rules combining criteria to reflect the point system approved\n3. Clarified that stability assays also included part of PS3/BS3 and uploaded functional data previously assessed \n ", "namespace": "GN019", "releaseNotes": "Minor changes: \n1\\. Added additional combinations to reach PM5\\_Strong \n2\\. Updated the Rules combining criteria to reflect the point system approved \n3\\. Clarified that stability assays also included part of PS3/BS3 and uploaded functional data previously assessed", "shortTitle": "Glaucoma", "specificationSource": "", "states": [ { "current": true, "event": { "modifiedBy": "esouzeau", "name": "cspec-released", "prevState": "Approved For Release", "timeStamp": "2025-11-06T00:01:50.479Z" }, "name": "Released" }, { "current": false, "event": { "modifiedBy": "esouzeau", "name": "cspec-reopened", "prevState": "Released", "timeStamp": "2025-09-04T04:34:26.706Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "esouzeau", "name": "pilot-rules-submitted", "prevState": "Pilot Rules In Prep", "timeStamp": "2025-09-04T05:20:03.837Z" }, "name": "Pilot Rules Submitted" }, { "current": false, "event": { "modifiedBy": "sharriso", "name": "pilot-rules-reviewed", "prevState": "Pilot Rules Submitted", "timeStamp": "2024-10-25T16:40:10.229Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "proberts", "name": "pilot-rules-approved", "prevState": "Pilot Rules Submitted", "timeStamp": "2025-10-01T18:27:06.483Z" }, "name": "Approved For Release" } ], "tagNameSpaces": [ "019" ], "title": "ClinGen Glaucoma Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MYOC Version 2.1.0", "type": "Tavtigian et.al., 2020 - Bayesian adaptation of Richards et.al., 2015", "version": "2.1.0", "versioned": true }, "entId": "GN019", "entType": "SequenceVariantInterpretation", "ld": { "CriteriaCode": [ { "entType": "CriteriaCode", "ldhId": "638433510", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/638433510", "rev": "_kjX2Md----" }, { "entType": "CriteriaCode", "ldhId": "635003704", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/635003704", "rev": "_kjX2Mei---" }, { "entType": "CriteriaCode", "ldhId": "635003692", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/635003692", "rev": "_kjX2Mdi---" }, { "entType": "CriteriaCode", "ldhId": "635003688", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/635003688", "rev": "_kjX2MYO---" }, { "entType": "CriteriaCode", "ldhId": "635003705", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/635003705", "rev": "_kjX2MeG---" }, { "entType": "CriteriaCode", "ldhId": "635003693", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/635003693", "rev": "_kjX2MXy---" }, { "entType": "CriteriaCode", "ldhId": "635003685", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/635003685", "rev": "_kjX2MZ----" }, { "entType": "CriteriaCode", "ldhId": "635003708", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/635003708", "rev": "_kjX2MZO---" }, { "entType": "CriteriaCode", "ldhId": "635003706", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/635003706", "rev": "_kjX2MbC---" }, { "entType": "CriteriaCode", "ldhId": "635003701", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/635003701", "rev": "_kjX2Mba---" }, { "entType": "CriteriaCode", "ldhId": "635003699", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/635003699", "rev": "_kjX2Ma2---" }, { "entType": "CriteriaCode", "ldhId": "635003697", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/635003697", "rev": "_kjX2McC---" }, { "entType": "CriteriaCode", "ldhId": "638433511", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/638433511", "rev": "_kjX2MWW---" }, { "entType": "CriteriaCode", "ldhId": "635003707", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/635003707", "rev": "_kjX2MdO---" }, { "entType": "CriteriaCode", "ldhId": "635003700", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/635003700", "rev": "_kjX2Mby---" }, { "entType": "CriteriaCode", "ldhId": "635003696", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/635003696", "rev": "_kjX2Mcq---" }, { "entType": "CriteriaCode", "ldhId": "635003695", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/635003695", "rev": "_kjX2MaC---" }, { "entType": "CriteriaCode", "ldhId": "635003694", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/635003694", "rev": "_kjX2MZu---" }, { "entType": "CriteriaCode", "ldhId": "635003691", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/635003691", "rev": "_kjX2MYm---" }, { "entType": "CriteriaCode", "ldhId": "635003690", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/635003690", "rev": "_kjX2MWq---" }, { "entType": "CriteriaCode", "ldhId": "635003687", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/635003687", "rev": "_kjX2MXS---" }, { "entType": "CriteriaCode", "ldhId": "635003684", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/635003684", "rev": "_kjX2McW---" }, { "entType": "CriteriaCode", "ldhId": "635003683", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/635003683", "rev": "_kjX2Mae---" }, { "entType": "CriteriaCode", "ldhId": "635003703", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/635003703", "rev": "_kjX2MW6---" }, { "entType": "CriteriaCode", "ldhId": "635003702", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/635003702", "rev": "_kjX2MXm---" }, { "entType": "CriteriaCode", "ldhId": "635003698", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/635003698", "rev": "_kjX2MZe---" }, { "entType": "CriteriaCode", "ldhId": "635003689", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/635003689", "rev": "_kjX2MY----" }, { "entType": "CriteriaCode", "ldhId": "635003686", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/635003686", "rev": "_kjX2Md2---" } ], "Disease": [ { "entId": "MONDO:0007665", "entIri": "http://purl.obolibrary.org/obo/MONDO_0007665", "entType": "Disease", "ldhId": "467890796", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/467890796", "rev": "_kZ7wJSu---" }, { "entId": "MONDO:0005338", "entIri": "http://purl.obolibrary.org/obo/MONDO_0005338", "entType": "Disease", "ldhId": "467897152", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/467897152", "rev": "_kZ7vtm----" }, { "entId": "MONDO:0020367", "entIri": "http://purl.obolibrary.org/obo/MONDO_0020367", "entType": "Disease", "ldhId": "467891695", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/467891695", "rev": "_kZ7yzuW---" } ], "Gene": [ { "entId": "MYOC", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7610", "entType": "Gene", "ldhId": "467841186", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/467841186", "rev": "_inf5BsK--V" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "635003681", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/635003681", "rev": "_kjX2MRK---" } ] }, "ldFor": { "Organization": [ { "entId": "50053", "entIri": "https://clinicalgenome.org/affiliation/50053", "entType": "Organization", "ldhId": "635003639", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/635003639", "rev": "_inf5B-6---" } ], "SequenceVariantInterpretation": [ { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" } ] }, "ldhId": "635003679", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/635003679", "modified": "2025-11-06T00:01:50.799Z", "modifier": "esouzeau", "rev": "_kjX2MMG---" }, { "entContent": { "approvedOn": "2025-11-07T16:04:39.465Z", "description": "ACMG-modified rules specifications for ATM (autosomal dominant and autosomal recessive disorders)", "namespace": "GN020", "releaseNotes": "Release notes v1.5 \nUploaded supporting documents by individual codes (PVS1, PS1, PS3/BS3, PM3/BP2) instead of one packet with all code specifications. Moved notes from old packet to CSPEC for PS3 instructions.  \nNo changes to any specifications.", "shortTitle": "Hereditary Breast, Ovarian and Pancreatic Cancer (HBOP)", "specificationSource": "", "states": [ { "current": true, "event": { "modifiedBy": "mhoenig", "name": "cspec-released", "prevState": "Approved For Release", "timeStamp": "2025-11-07T16:04:39.465Z" }, "name": "Released" }, { "current": false, "event": { "modifiedBy": "mhoenig", "name": "cspec-reopened", "prevState": "Released", "timeStamp": "2025-10-28T20:15:50.955Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "mhoenig", "name": "pilot-rules-submitted", "prevState": "Pilot Rules In Prep", "timeStamp": "2025-10-28T20:29:32.979Z" }, "name": "Pilot Rules Submitted" }, { "current": false, "event": { "modifiedBy": "sharriso", "name": "pilot-rules-reviewed", "prevState": "Pilot Rules Submitted", "timeStamp": "2025-04-22T16:32:18.245Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "sharriso", "name": "pilot-rules-approved", "prevState": "Pilot Rules Submitted", "timeStamp": "2025-11-05T21:33:29.950Z" }, "name": "Approved For Release" }, { "current": false, "event": { "modifiedBy": "meganholdren", "name": "pilot-rules-withdrawn", "prevState": "Pilot Rules Submitted", "timeStamp": "2024-03-04T19:34:25.031Z" }, "name": "Pilot Rules In Prep" } ], "tagNameSpaces": [ "020" ], "title": "ClinGen Hereditary Breast, Ovarian and Pancreatic Cancer Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for ATM Version 1.5.0", "type": "Richards et.al., 2015 - Combining rules", "version": "1.5.0", "versioned": true }, "entId": "GN020", "entType": "SequenceVariantInterpretation", "ld": { "CriteriaCode": [ { "entType": "CriteriaCode", "ldhId": "639509014", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/639509014", "rev": "_kj6OChS---" }, { "entType": "CriteriaCode", "ldhId": "639509013", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/639509013", "rev": "_kj6OCjq---" }, { "entType": "CriteriaCode", "ldhId": "639509007", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/639509007", "rev": "_kj6OCnO---" }, { "entType": "CriteriaCode", "ldhId": "639509005", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/639509005", "rev": "_kj6OCr6---" }, { "entType": "CriteriaCode", "ldhId": "639509001", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/639509001", "rev": "_kj6OCnC---" }, { "entType": "CriteriaCode", "ldhId": "639508995", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/639508995", "rev": "_kj6OCre---" }, { "entType": "CriteriaCode", "ldhId": "639509017", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/639509017", "rev": "_kj6OCiS---" }, { "entType": "CriteriaCode", "ldhId": "639509000", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/639509000", "rev": "_kj6OCgK---" }, { "entType": "CriteriaCode", "ldhId": "639508996", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/639508996", "rev": "_kj6OCl6---" }, { "entType": "CriteriaCode", "ldhId": "639508993", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/639508993", "rev": "_kj6OCkC---" }, { "entType": "CriteriaCode", "ldhId": "639508992", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/639508992", "rev": "_kj6OCqi---" }, { "entType": "CriteriaCode", "ldhId": "639509016", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/639509016", "rev": "_kj6OCfm---" }, { "entType": "CriteriaCode", "ldhId": "639509004", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/639509004", "rev": "_kj6OCfW---" }, { "entType": "CriteriaCode", "ldhId": "639509003", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/639509003", "rev": "_kj6OCrq---" }, { "entType": "CriteriaCode", "ldhId": "639508998", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/639508998", "rev": "_kj6OChq---" }, { "entType": "CriteriaCode", "ldhId": "639508997", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/639508997", "rev": "_kj6OCq6---" }, { "entType": "CriteriaCode", "ldhId": "639508991", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/639508991", "rev": "_kj6OCi----" }, { "entType": "CriteriaCode", "ldhId": "639509018", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/639509018", "rev": "_kj6OCg6---" }, { "entType": "CriteriaCode", "ldhId": "639509008", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/639509008", "rev": "_kj6OCoa---" }, { "entType": "CriteriaCode", "ldhId": "639508999", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/639508999", "rev": "_kj6OCga---" }, { "entType": "CriteriaCode", "ldhId": "639509015", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/639509015", "rev": "_kj6OCla---" }, { "entType": "CriteriaCode", "ldhId": "639509012", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/639509012", "rev": "_kj6OCf6---" }, { "entType": "CriteriaCode", "ldhId": "639509011", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/639509011", "rev": "_kj6OCnu---" }, { "entType": "CriteriaCode", "ldhId": "639509010", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/639509010", "rev": "_kj6OCoC---" }, { "entType": "CriteriaCode", "ldhId": "639509009", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/639509009", "rev": "_kj6OClG---" }, { "entType": "CriteriaCode", "ldhId": "639509006", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/639509006", "rev": "_kj6OCrG---" }, { "entType": "CriteriaCode", "ldhId": "639509002", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/639509002", "rev": "_kj6OCqK---" }, { "entType": "CriteriaCode", "ldhId": "639508994", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/639508994", "rev": "_kj6OCja---" } ], "Disease": [ { "created": "2024-11-20T22:14:03.908Z", "entId": "MONDO:0700270", "entIri": "http://purl.obolibrary.org/obo/MONDO_0700270", "entType": "Disease", "ldhId": "66816762", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/66816762", "rev": "_kZ70Dpa---" }, { "entId": "MONDO:0016419", "entIri": "http://purl.obolibrary.org/obo/MONDO_0016419", "entType": "Disease", "ldhId": "467880845", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/467880845", "rev": "_kZ7x9o----" }, { "entId": "MONDO:0018266", "entIri": "http://purl.obolibrary.org/obo/MONDO_0018266", "entType": "Disease", "ldhId": "467877093", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/467877093", "rev": "_kZ7yWNO---" }, { "entId": "MONDO:0008840", "entIri": "http://purl.obolibrary.org/obo/MONDO_0008840", "entType": "Disease", "ldhId": "467877731", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/467877731", "rev": "_kZ7wYJS---" } ], "Gene": [ { "entId": "ATM", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:795", "entType": "Gene", "ldhId": "467818057", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/467818057", "rev": "_inf5A8i--N" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "639508987", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/639508987", "rev": "_kj6OCZO---" } ] }, "ldFor": { "Organization": [ { "entId": "50039", "entIri": "http://clinicalgenome.org/affiliation/50039", "entType": "Organization", "ldhId": "639508880", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/639508880", "rev": "_inf5B_G--X" } ], "SequenceVariantInterpretation": [ { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" } ] }, "ldhId": "639508985", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/639508985", "modified": "2025-11-07T16:04:39.866Z", "modifier": "mhoenig", "rev": "_kj6OCUS---" }, { "entContent": { "approvedOn": "2025-09-04T13:01:46.464Z", "description": "ACADVL Specifications version 2.0. The VCEP reviewed all the codes and updated wording.\nACADVL Specifications version 2.0.1. The VCEP updated the wording for PP3 and BP4 to only include reference to the Splice AI tool.\n \n \n ", "namespace": "GN021", "releaseNotes": "Version 2.0.1 - the ACADVL VCEP reviewed the PP3 and BP4 codes' wording and updated the reference to only include the Splice AI tool.", "shortTitle": "ACADVL Variant Curation Expert Panel", "specificationSource": "", "states": [ { "current": true, "event": { "modifiedBy": "mweaver", "name": "cspec-released", "prevState": "Approved For Release", "timeStamp": "2025-09-04T13:01:46.464Z" }, "name": "Released" }, { "current": false, "event": { "modifiedBy": "mweaver", "name": "cspec-reopened", "prevState": "Released", "timeStamp": "2025-09-01T12:34:35.659Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "mweaver", "name": "pilot-rules-submitted", "prevState": "Pilot Rules In Prep", "timeStamp": "2025-09-01T12:40:55.834Z" }, "name": "Pilot Rules Submitted" }, { "current": false, "event": { "modifiedBy": "tsneddon", "name": "pilot-rules-reviewed", "prevState": "Pilot Rules Submitted", "timeStamp": "2025-04-16T16:16:14.588Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "mweaver", "name": "pilot-rules-withdrawn", "prevState": "Pilot Rules Submitted", "timeStamp": "2025-03-13T13:33:11.239Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "tpsneddon", "name": "pilot-rules-approved", "prevState": "Pilot Rules Submitted", "timeStamp": "2025-09-04T12:27:44.844Z" }, "name": "Approved For Release" } ], "tagNameSpaces": [ "021" ], "title": "ClinGen ACADVL Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for ACADVL Version 2.1.0", "type": "Richards et.al., 2015 - Combining rules", "version": "2.1.0", "versioned": true }, "entId": "GN021", "entType": "SequenceVariantInterpretation", "ld": { "CriteriaCode": [ { "entType": "CriteriaCode", "ldhId": "639509404", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/639509404", "rev": "_kPRPmt6---" }, { "entType": "CriteriaCode", "ldhId": "639509399", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/639509399", "rev": "_kPRPmwi---" }, { "entType": "CriteriaCode", "ldhId": "639509382", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/639509382", "rev": "_kPRPmwO--B" }, { "entType": "CriteriaCode", "ldhId": "639509380", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/639509380", "rev": "_kPRPmuq---" }, { "entType": "CriteriaCode", "ldhId": "639509401", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/639509401", "rev": "_kPRPmqm---" }, { "entType": "CriteriaCode", "ldhId": "639509397", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/639509397", "rev": "_kPRPmw---B" }, { "entType": "CriteriaCode", "ldhId": "639509396", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/639509396", "rev": "_kPRPmtO---" }, { "entType": "CriteriaCode", "ldhId": "639509393", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/639509393", "rev": "_kPRPmqK---" }, { "entType": "CriteriaCode", "ldhId": "639509389", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/639509389", "rev": "_kPRPmvO---" }, { "entType": "CriteriaCode", "ldhId": "639509383", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/639509383", "rev": "_kPRPmpq---" }, { "entType": "CriteriaCode", "ldhId": "639509381", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/639509381", "rev": "_kPRPmtm---" }, { "entType": "CriteriaCode", "ldhId": "639509405", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/639509405", "rev": "_kPRPmvy---" }, { "entType": "CriteriaCode", "ldhId": "639509403", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/639509403", "rev": "_kPRPmw2---" }, { "entType": "CriteriaCode", "ldhId": "639509400", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/639509400", "rev": "_kPRPmuS---" }, { "entType": "CriteriaCode", "ldhId": "639509398", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/639509398", "rev": "_kPRPmxu---" }, { "entType": "CriteriaCode", "ldhId": "639509395", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/639509395", "rev": "_kPRPmvi--A" }, { "entType": "CriteriaCode", "ldhId": "639509391", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/639509391", "rev": "_kPRPmxi---" }, { "entType": "CriteriaCode", "ldhId": "639509384", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/639509384", "rev": "_kPRPmra---" }, { "entType": "CriteriaCode", "ldhId": "639509379", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/639509379", "rev": "_kPRPmry---" }, { "entType": "CriteriaCode", "ldhId": "639509406", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/639509406", "rev": "_kPRPmyO---" }, { "entType": "CriteriaCode", "ldhId": "639509402", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/639509402", "rev": "_kPRPmyC---" }, { "entType": "CriteriaCode", "ldhId": "639509390", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/639509390", "rev": "_kPRPmv----" }, { "entType": "CriteriaCode", "ldhId": "639509387", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/639509387", "rev": "_kPRPmpW---" }, { "entType": "CriteriaCode", "ldhId": "639509386", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/639509386", "rev": "_kPRPmsi---" }, { "entType": "CriteriaCode", "ldhId": "639509394", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/639509394", "rev": "_kPRPmxK---" }, { "entType": "CriteriaCode", "ldhId": "639509392", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/639509392", "rev": "_kPRPmrC---" }, { "entType": "CriteriaCode", "ldhId": "639509388", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/639509388", "rev": "_kPRPmsS---" }, { "entType": "CriteriaCode", "ldhId": "639509385", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/639509385", "rev": "_kPRPmtC---" } ], "Disease": [ { "entId": "MONDO:0008723", "entIri": "http://purl.obolibrary.org/obo/MONDO_0008723", "entType": "Disease", "ldhId": "467878321", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/467878321", "rev": "_kZ7wW2W---" } ], "Gene": [ { "entId": "ACADVL", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:92", "entType": "Gene", "ldhId": "467816115", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/467816115", "rev": "_inf5A8W--X" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "639509377", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/639509377", "rev": "_kPRPmjS---" } ] }, "ldFor": { "Organization": [ { "entId": "50048", "entIri": "https://clinicalgenome.org/affiliation/50048", "entType": "Organization", "ldhId": "635003640", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/635003640", "rev": "_inf5B_G--Z" } ], "SequenceVariantInterpretation": [ { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" } ] }, "ldhId": "639509375", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/639509375", "modified": "2025-09-04T13:01:46.844Z", "modifier": "mweaver", "rev": "_kPRPmeW---" }, { "entContent": { "approvedOn": "2022-01-05T00:00:00.000Z", "description": "This version specified for the following genes: FBN1", "namespace": "GN022", "releaseNotes": "", "releasedUnderRevision": true, "shortTitle": "FBN1 Variant Curation Expert Panel", "specificationSource": "https://clinicalgenome.org/docs/clingen-fbn1-expert-panel-specifications-to-the-acmg-amp-variant-interpretation-guidelines-version-1/", "states": [ { "current": false, "event": { "name": "cspec-released", "prevState": "Approved For Release", "timeStamp": "2022-01-05T00:00:00.000Z" }, "name": "Released" }, { "current": true, "event": { "name": "cspec-reopened", "prevState": "Released", "timeStamp": "2026-03-02T16:46:24.394Z" }, "name": "Pilot Rules In Prep" } ], "tagNameSpaces": [ "022" ], "title": "ClinGen FBN1 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1", "version": "1.0.0", "versioned": true }, "entId": "GN022", "entType": "SequenceVariantInterpretation", "ld": { "CriteriaCode": [ { "entType": "CriteriaCode", "ldhId": "643243127", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243127", "rev": "_inf5Api--g" }, { "entType": "CriteriaCode", "ldhId": "643243121", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243121", "rev": "_inf5Apu--C" }, { "entType": "CriteriaCode", "ldhId": "643243120", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243120", "rev": "_inf5Ap2--R" }, { "entType": "CriteriaCode", "ldhId": "643243116", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243116", "rev": "_inf5Apm--J" }, { "entType": "CriteriaCode", "ldhId": "643243130", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243130", "rev": "_inf5Apu--E" }, { "entType": "CriteriaCode", "ldhId": "643243125", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243125", "rev": "_inf5Ap2--l" }, { "entType": "CriteriaCode", "ldhId": "643243124", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243124", "rev": "_inf5Ap2--T" }, { "entType": "CriteriaCode", "ldhId": "643243122", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243122", "rev": "_inf5Apu--D" }, { "entType": "CriteriaCode", "ldhId": "643243118", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243118", "rev": "_inf5Ap6--L" }, { "entType": "CriteriaCode", "ldhId": "643243111", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243111", "rev": "_inf5Ap6--J" }, { "entType": "CriteriaCode", "ldhId": "643243109", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243109", "rev": "_inf5Aq---D" }, { "entType": "CriteriaCode", "ldhId": "643243108", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243108", "rev": "_inf5Aq----" }, { "entType": "CriteriaCode", "ldhId": "643243106", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243106", "rev": "_inf5Ap2--Q" }, { "entType": "CriteriaCode", "ldhId": "643243129", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243129", "rev": "_inf5Ap2--U" }, { "entType": "CriteriaCode", "ldhId": "643243126", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243126", "rev": "_inf5Ap6--b" }, { "entType": "CriteriaCode", "ldhId": "643243123", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243123", "rev": "_inf5Ap2--S" }, { "entType": "CriteriaCode", "ldhId": "643243119", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243119", "rev": "_inf5Api--f" }, { "entType": "CriteriaCode", "ldhId": "643243117", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243117", "rev": "_inf5Api--e" }, { "entType": "CriteriaCode", "ldhId": "643243112", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243112", "rev": "_inf5Ap6--K" }, { "entType": "CriteriaCode", "ldhId": "643243107", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243107", "rev": "_inf5Ap6--I" }, { "entType": "CriteriaCode", "ldhId": "643243133", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243133", "rev": "_inf5Ap6--N" }, { "entType": "CriteriaCode", "ldhId": "643243132", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243132", "rev": "_inf5Ap2--V" }, { "entType": "CriteriaCode", "ldhId": "643243131", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243131", "rev": "_inf5Ap6--M" }, { "entType": "CriteriaCode", "ldhId": "643243128", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243128", "rev": "_inf5Api--h" }, { "entType": "CriteriaCode", "ldhId": "643243115", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243115", "rev": "_inf5Ap6--a" }, { "entType": "CriteriaCode", "ldhId": "643243114", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243114", "rev": "_inf5Api--d" }, { "entType": "CriteriaCode", "ldhId": "643243113", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243113", "rev": "_inf5Ap6--Z" }, { "entType": "CriteriaCode", "ldhId": "643243110", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243110", "rev": "_inf5Api--c" } ], "Disease": [ { "entId": "MONDO:0007947", "entIri": "http://purl.obolibrary.org/obo/MONDO_0007947", "entType": "Disease", "ldhId": "467897451", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/467897451", "rev": "_kZ7wM7G---" } ], "Gene": [ { "entId": "FBN1", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3603", "entType": "Gene", "ldhId": "467826222", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/467826222", "rev": "_inf5BMm--b" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "643243099", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/643243099", "rev": "_inf5BHW--O" } ] }, "ldFor": { "Organization": [ { "entId": "50046", "entIri": "http://clinicalgenome.org/affiliation/50046", "entType": "Organization", "ldhId": "639508883", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/639508883", "rev": "_inf5B_---C" } ], "SequenceVariantInterpretation": [ { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" } ] }, "ldhId": "643243092", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243092", "modified": "2026-03-02T16:46:24.600Z", "modifier": "adrackley", "rev": "_lI7vlUS---" }, { "entContent": { "approvedOn": "2022-03-30T00:00:00.000Z", "description": "", "hideFlag": false, "legacy": true, "legacyReplaced": false, "namespace": "GN023", "shortTitle": "Hearing Loss Variant Curation Expert Panel", "specificationSource": "https://clinicalgenome.org/site/assets/files/7814/clingen_hl_acmg_specifications_otof_myo15a_v1.pdf", "states": [ { "current": true, "event": { "name": "cspec-released", "prevState": "Approved For Release", "timeStamp": "2022-03-30T00:00:00.000Z" }, "name": "Released" } ], "tagNameSpaces": [ "023" ], "title": "ClinGen Hearing Loss Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for OTOF and MYO15A Version 1", "version": "1.0.0" }, "entId": "GN023", "entType": "SequenceVariantInterpretation", "ld": { "CriteriaCode": [ { "entType": "CriteriaCode", "ldhId": "643243158", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243158", "rev": "_inf5Ap6--W" }, { "entType": "CriteriaCode", "ldhId": "643243150", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243150", "rev": "_inf5Ap6--f" }, { "entType": "CriteriaCode", "ldhId": "643243145", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243145", "rev": "_inf5Ap6--V" }, { "entType": "CriteriaCode", "ldhId": "643243143", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243143", "rev": "_inf5Ap6--T" }, { "entType": "CriteriaCode", "ldhId": "643243142", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243142", "rev": "_inf5Apu--G" }, { "entType": "CriteriaCode", "ldhId": "643243138", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243138", "rev": "_inf5Api--j" }, { "entType": "CriteriaCode", "ldhId": "643243156", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243156", "rev": "_inf5Apu--K" }, { "entType": "CriteriaCode", "ldhId": "643243148", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243148", "rev": "_inf5Api--m" }, { "entType": "CriteriaCode", "ldhId": "643243146", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243146", "rev": "_inf5Ap6--e" }, { "entType": "CriteriaCode", "ldhId": "643243160", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243160", "rev": "_inf5Api--q" }, { "entType": "CriteriaCode", "ldhId": "643243157", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243157", "rev": "_inf5Ap6--h" }, { "entType": "CriteriaCode", "ldhId": "643243153", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243153", "rev": "_inf5Apu--J" }, { "entType": "CriteriaCode", "ldhId": "643243147", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243147", "rev": "_inf5Apu--H" }, { "entType": "CriteriaCode", "ldhId": "643243144", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243144", "rev": "_inf5Ap6--U" }, { "entType": "CriteriaCode", "ldhId": "643243135", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243135", "rev": "_inf5Ap6--R" }, { "entType": "CriteriaCode", "ldhId": "643243161", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243161", "rev": "_inf5Ap6--X" }, { "entType": "CriteriaCode", "ldhId": "643243159", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243159", "rev": "_inf5Apu--L" }, { "entType": "CriteriaCode", "ldhId": "643243155", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243155", "rev": "_inf5Api--p" }, { "entType": "CriteriaCode", "ldhId": "643243154", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243154", "rev": "_inf5Api--o" }, { "entType": "CriteriaCode", "ldhId": "643243141", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243141", "rev": "_inf5Api--l" }, { "entType": "CriteriaCode", "ldhId": "643243140", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243140", "rev": "_inf5Ap6--S" }, { "entType": "CriteriaCode", "ldhId": "643243136", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243136", "rev": "_inf5Api--i" }, { "entType": "CriteriaCode", "ldhId": "643243134", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243134", "rev": "_inf5Ap6--d" }, { "entType": "CriteriaCode", "ldhId": "643243152", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243152", "rev": "_inf5Api--n" }, { "entType": "CriteriaCode", "ldhId": "643243151", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243151", "rev": "_inf5Ap6--g" }, { "entType": "CriteriaCode", "ldhId": "643243149", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243149", "rev": "_inf5Apu--I" }, { "entType": "CriteriaCode", "ldhId": "643243139", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243139", "rev": "_inf5Api--k" }, { "entType": "CriteriaCode", "ldhId": "643243137", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243137", "rev": "_inf5Apu--F" } ], "Disease": [ { "entId": "MONDO:0019497", "entIri": "http://purl.obolibrary.org/obo/MONDO_0019497", "entType": "Disease", "ldhId": "135642095", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642095", "rev": "_inf5BdK--X" } ], "Gene": [ { "entId": "OTOF", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8515", "entType": "Gene", "ldhId": "467844034", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/467844034", "rev": "_inf5B0W--i" }, { "entId": "MYO15A", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7594", "entType": "Gene", "ldhId": "467841177", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/467841177", "rev": "_inf5BsK--D" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "643243100", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/643243100", "rev": "_inf5BHW--P" } ], "SequenceVariantInterpretation": [ { "entId": "GN065", "entType": "SequenceVariantInterpretation", "ldhId": "643243135", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243135", "rev": "_inf5BXW--J" }, { "entId": "GN066", "entType": "SequenceVariantInterpretation", "ldhId": "643243136", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243136", "rev": "_inf5BXO---" } ] }, "ldFor": { "Organization": [ { "entId": "50007", "entIri": "http://clinicalgenome.org/affiliation/50007", "entType": "Organization", "ldhId": "135637631", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/135637631", "rev": "_inf5B_G--V" } ], "SequenceVariantInterpretation": [ { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" } ] }, "ldhId": "643243093", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243093", "modified": "2023-09-29T15:16:48.775Z", "modifier": "cspecAdministrator", "rev": "_inf5BXi--W" }, { "entContent": { "approvedOn": "2025-07-08T17:29:48.449Z", "description": "1.4 Release:\n1. Updated C Spec specifications type to Tavtigian points based system as allowed in the latest C Spec release in order to appropriately reflect the classification schema the VCEP has used from the start and to remove the irrelevant criteria combinations at the bottom of the page.\n2. PP3/BP4: Changed REVEL cutoffs to 3 decimal points to avoid ambiguity regarding rounding.\n\n1.3 Release:\n1. BA1/BS1/PM2 Clarification: In light of the recent release of gnomAD v4.0.0 without a (non-cancer) filter, removed the (non-cancer) text and added the following clarifying instruction: \"In general, the most recent/most comprehensive gnomAD version should be used.\"\n2. Criteria Combination Clarification: Added a general comment to the C Spec asking users to disregard the \"Rules for Combining Criteria\" section and instead use the \"Evidence Criteria Combinations\" table.\n \n ", "namespace": "GN024", "releaseNotes": "1.4.0 Notes:\n\n1\\. Updated C Spec specifications type to Tavtigian points based system as allowed in the latest C Spec release in order to appropriately reflect the classification schema the VCEP has used from the start and to remove the irrelevant criteria combinations at the bottom of the page. \n2\\. PP3/BP4: Changed REVEL cutoffs to 3 decimal points to avoid ambiguity regarding rounding.\n\n1.3.0 Notes:\n\n1\\. BA1/BS1/PM2 Clarification: In light of the recent release of gnomAD v4.0.0 without a (non-cancer) filter, removed the (non-cancer) text and added the following clarifying instruction: \"In general, the most recent/most comprehensive gnomAD version should be used.\" \n2\\. Criteria Combination Clarification: Added a general comment to the C Spec asking users to disregard the \"Rules for Combining Criteria\" section and instead use the \"Evidence Criteria Combinations\" table.", "shortTitle": "DICER1 and miRNA-Processing Gene Specification", "specificationSource": "", "states": [ { "current": true, "event": { "modifiedBy": "dagherjn", "name": "cspec-released", "prevState": "Approved For Release", "timeStamp": "2025-07-08T17:29:48.449Z" }, "name": "Released" }, { "current": false, "event": { "modifiedBy": "dagherjn", "name": "cspec-reopened", "prevState": "Released", "timeStamp": "2025-06-25T20:59:41.963Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "dagherjn", "name": "pilot-rules-submitted", "prevState": "Pilot Rules In Prep", "timeStamp": "2025-06-26T13:39:07.236Z" }, "name": "Pilot Rules Submitted" }, { "current": false, "event": { "modifiedBy": "sharriso", "name": "pilot-rules-approved", "prevState": "Pilot Rules Submitted", "timeStamp": "2025-07-07T16:48:28.114Z" }, "name": "Approved For Release" } ], "tagNameSpaces": [ "024" ], "title": "ClinGen DICER1 and miRNA-Processing Gene Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for DICER1 Version 1.4.0", "type": "Tavtigian et.al., 2020 - Bayesian adaptation of Richards et.al., 2015", "version": "1.4.0", "versioned": true }, "entId": "GN024", "entType": "SequenceVariantInterpretation", "ld": { "CriteriaCode": [ { "entType": "CriteriaCode", "ldhId": "643243189", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243189", "rev": "_j8qUJuK---" }, { "entType": "CriteriaCode", "ldhId": "643243181", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243181", "rev": "_j8qUJzS---" }, { "entType": "CriteriaCode", "ldhId": "643243170", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243170", "rev": "_j8qUJtG---" }, { "entType": "CriteriaCode", "ldhId": "643243165", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243165", "rev": "_j8qUJsC---" }, { "entType": "CriteriaCode", "ldhId": "643243162", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243162", "rev": "_j8qUJua--A" }, { "entType": "CriteriaCode", "ldhId": "643243183", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243183", "rev": "_j8qUJvK---" }, { "entType": "CriteriaCode", "ldhId": "643243175", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243175", "rev": "_j8qUJ0y---" }, { "entType": "CriteriaCode", "ldhId": "643243174", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243174", "rev": "_j8qUJxm---" }, { "entType": "CriteriaCode", "ldhId": "643243172", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243172", "rev": "_j8qUJte---" }, { "entType": "CriteriaCode", "ldhId": "643243188", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243188", "rev": "_j8qUJty---" }, { "entType": "CriteriaCode", "ldhId": "643243186", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243186", "rev": "_j8qUJsW---" }, { "entType": "CriteriaCode", "ldhId": "643243177", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243177", "rev": "_j8qUJvu---" }, { "entType": "CriteriaCode", "ldhId": "643243169", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243169", "rev": "_j8qUJsm---" }, { "entType": "CriteriaCode", "ldhId": "643243168", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243168", "rev": "_j8qUJwK---" }, { "entType": "CriteriaCode", "ldhId": "643243164", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243164", "rev": "_j8qUJyO---" }, { "entType": "CriteriaCode", "ldhId": "643243187", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243187", "rev": "_j8qUJxK---" }, { "entType": "CriteriaCode", "ldhId": "643243185", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243185", "rev": "_j8qUJzu---" }, { "entType": "CriteriaCode", "ldhId": "643243182", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243182", "rev": "_j8qUJvW---" }, { "entType": "CriteriaCode", "ldhId": "643243173", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243173", "rev": "_j8qUJwe---" }, { "entType": "CriteriaCode", "ldhId": "643243166", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243166", "rev": "_j8qUJ0a---" }, { "entType": "CriteriaCode", "ldhId": "643243184", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243184", "rev": "_j8qUJ1----" }, { "entType": "CriteriaCode", "ldhId": "643243180", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243180", "rev": "_j8qUJu2---" }, { "entType": "CriteriaCode", "ldhId": "643243179", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243179", "rev": "_j8qUJ0----" }, { "entType": "CriteriaCode", "ldhId": "643243178", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243178", "rev": "_j8qUJs2---" }, { "entType": "CriteriaCode", "ldhId": "643243176", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243176", "rev": "_j8qUJx6---" }, { "entType": "CriteriaCode", "ldhId": "643243171", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243171", "rev": "_j8qUJy6---" }, { "entType": "CriteriaCode", "ldhId": "643243167", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243167", "rev": "_j8qUJye---" }, { "entType": "CriteriaCode", "ldhId": "643243163", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243163", "rev": "_j8qUJwu---" } ], "Disease": [ { "entId": "MONDO:0100216", "entIri": "http://purl.obolibrary.org/obo/MONDO_0100216", "entType": "Disease", "ldhId": "1571068601", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/1571068601", "rev": "_kZ7z5nO---" }, { "entId": "MONDO:0017288", "entIri": "http://purl.obolibrary.org/obo/MONDO_0017288", "entType": "Disease", "ldhId": "467897091", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/467897091", "rev": "_kZ7yIcq---" } ], "Gene": [ { "entId": "DICER1", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17098", "entType": "Gene", "ldhId": "467823568", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/467823568", "rev": "_inf5BE6--c" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "643243101", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/643243101", "rev": "_j8qUJmG---" } ] }, "ldFor": { "Organization": [ { "entId": "50050", "entIri": "http://clinicalgenome.org/affiliation/50050", "entType": "Organization", "ldhId": "639508885", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/639508885", "rev": "_inf5B_G--G" } ], "SequenceVariantInterpretation": [ { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" } ] }, "ldhId": "643243094", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243094", "modified": "2025-07-08T17:29:48.807Z", "modifier": "dagherjn", "rev": "_j8qUJhC---" }, { "entContent": { "approvedOn": "2024-12-03T14:46:43.532Z", "description": "Cerebral Creatine Deficiency Syndromes Variant Curation Expert Panel ACMG Classification Rules Specified for GATM (arginine:glycine amidinotransferase) Summary of ACMG-AMP Criteria for GATM Variants", "namespace": "GN025", "releaseNotes": "The following changes were made to include guidance from the SVI on classification of splicing variants (Walker et al, 2023, PMID: 37352859) and the use of in silico data (Pejaver et al, 2022, PMID: 36413997), as well as the new version of gnomAD. Otherwise, no significant changes have been made.\n\n* A statement summarizing the use of guidance from the SVI Splicing subgroup was added to the “instructions” section for PVS1.\n* PS1\\_Moderate and PS1\\_Supporting were added to include the possible use of these codes for splicing variants, as outlined in PMID: 37352859.\n* Details on splicing assays e.g. RT-PCR were removed from PS3 because this data is now included in PVS1 (PMID: 37352859)\n* PP3\\_Moderate has been added to allow use of this code at higher strength than supporting based on PMID: 36413997.\n* BP4 has been updated to include new cut-offs for REVEL and SpliceAI based on SVI guidance (PMID: 36413997, PMID: 37352859).\n* BP7 was updated to include application of this code for intronic variants (at or beyond +7/-21) with no splicing impact, and BP7\\_Strong was added to allow for use of RT-PCR data, as indicated in PMID: 37352859.\n\n**Added the following statement in PVS1 instructions:**\n\nFollow the guidance from the ClinGen SVI Splicing Subgroup capturing evidence related to predicted and observed impact on splicing (Walker et al, 2023, PMID: 37352859). Follow the decision tree outlined in Figure 5. As shown, if PVS1 is applied at any strength, PP3 should not be applied. Experimental evidence, such as RT-PCR, is used to determine the weight of PVS1; PS3 is not applied if PVS1 is applied; instead PVS1\\_Strength (RNA) is used. PS1 may also be applied for splice variants (see Table 3 in PMID: 37352859). Regarding assays to assess splicing, in patients who are compound heterozygotes for a splicing variant and another variant type that does not disrupt splicing (such as a missense variant), evidence of normal splicing is expected. Therefore, the presence of normal splice products could complicate the assessment of the impact of the splice variant.\n\n**A new version of the PVS1 flowchart has been uploaded**\n\nPreviously, only an Excel version was included. This has been replaced with a GATM-specific version of editable PVS1 flowchart PPT file from the SVI. \n\n**Added the following statement under PS1:**\n\nPS1 may also be applied for splicing variants under specific circumstances (see Table 3 in PMID: 37352859).\n\n**Have now included PS1\\_Moderate:**\n\n* This criterion is applicable as is for any variant resulting in the same amino acid change as a previously established likely pathogenic variant regardless of nucleotide change.\n* If the variant is in the last 3 nucleotides of an exon, further analysis using splicing site prediction algorithms (see PP3) and data from the literature (if available) is required to investigate the impact on splicing.\n* PS1\\_Moderate may also be applied for splicing variants under specific circumstances (see Table 3 in PMID: 37352859).\n\n**Have now included PS1\\_Supporting:**\n\nPS1\\_Supporting may also be applied for splicing variants under specific circumstances (see Table 3 in PMID: 37352859).\n\n**Updated PS3** to remove splicing assays as those are now included under PVS1. Therefore, PS3 is now deleted, and PS3\\_Supporting has been updated to include on in vitro enzyme assay.\n\n**For PP3,** added Pejaver et al for different strength, and removed current statement from PP3\\_Moderate (regarding splicing) as this is now included under PS1.\n\n**For BP4**, added “ REVEL score \\<0.29 for missense variants (based on guidance from Pejaver et al, 2022, PMID: 36413997).”\n\nFor BP7, added “A synonymous (silent) variant OR an intronic variant at or beyond positions +7 and -21, for which SpliceAI, [https://spliceailookup.broadinstitute.org/](https://spliceailookup.broadinstitute.org/), predicts no impact on splicing (score \\<0.1).”\n\n**Combining criteria**\n\nAdditional combinations have been added for “Likely Pathogenic” to be consistent with the Richards et al combining criteria and to include the option for PVS1 + PM2\\_Supporting -> Likely Pathogenic, as recommended by the SVI.", "releasedUnderRevision": true, "shortTitle": "Cerebral Creatine Deficiency Syndromes Specification", "specificationSource": "", "states": [ { "current": true, "event": { "modifiedBy": "jennifer.goldstein@unc.edu", "name": "cspec-released", "prevState": "Approved For Release", "timeStamp": "2024-12-03T14:46:43.532Z" }, "name": "Released" }, { "current": false, "event": { "modifiedBy": "jennifer.goldstein@unc.edu", "name": "cspec-reopened", "prevState": "Released", "timeStamp": "2023-10-11T16:59:34.069Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "jennifer.goldstein@unc.edu", "name": "pilot-rules-submitted", "prevState": "Pilot Rules In Prep", "timeStamp": "2024-10-28T14:17:22.959Z" }, "name": "Pilot Rules Submitted" }, { "current": false, "event": { "modifiedBy": "jennifer.goldstein@unc.edu", "name": "pilot-rules-withdrawn", "prevState": "Pilot Rules Submitted", "timeStamp": "2022-09-07T17:54:02.758Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "proberts", "name": "pilot-rules-approved", "prevState": "Pilot Rules Submitted", "timeStamp": "2024-11-19T17:48:06.246Z" }, "name": "Approved For Release" }, { "current": false, "event": { "modifiedBy": "proberts", "name": "pilot-rules-reviewed", "prevState": "Pilot Rules Submitted", "timeStamp": "2024-09-27T13:29:29.094Z" }, "name": "Pilot Rules In Prep" } ], "tagNameSpaces": [ "025" ], "title": "ClinGen Cerebral Creatine Deficiency Syndromes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for GATM Version 2.0.0", "version": "2.0.0", "versioned": true }, "entId": "GN025", "entType": "SequenceVariantInterpretation", "ld": { "CriteriaCode": [ { "entType": "CriteriaCode", "ldhId": "643243216", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243216", "rev": "_i2x65Dy---" }, { "entType": "CriteriaCode", "ldhId": "643243214", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243214", "rev": "_i2x65_q---" }, { "entType": "CriteriaCode", "ldhId": "643243209", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243209", "rev": "_i2x65Ki---" }, { "entType": "CriteriaCode", "ldhId": "643243204", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243204", "rev": "_i2x65Jq---" }, { "entType": "CriteriaCode", "ldhId": "643243199", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243199", "rev": "_i2x65E2---" }, { "entType": "CriteriaCode", "ldhId": "643243195", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243195", "rev": "_i2x65Ay---" }, { "entType": "CriteriaCode", "ldhId": "643243190", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243190", "rev": "_i2x65Gy---" }, { "entType": "CriteriaCode", "ldhId": "643243215", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243215", "rev": "_i2x65Ou---" }, { "entType": "CriteriaCode", "ldhId": "643243212", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243212", "rev": "_i2x648m---" }, { "entType": "CriteriaCode", "ldhId": "643243208", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243208", "rev": "_i2x65P2---" }, { "entType": "CriteriaCode", "ldhId": "643243200", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243200", "rev": "_i2x65M2---" }, { "entType": "CriteriaCode", "ldhId": "643243194", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243194", "rev": "_i2x646----" }, { "entType": "CriteriaCode", "ldhId": "643243192", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243192", "rev": "_i2x644S---" }, { "entType": "CriteriaCode", "ldhId": "643243191", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243191", "rev": "_i2x65Qi---" }, { "entType": "CriteriaCode", "ldhId": "643243213", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243213", "rev": "_i2x65Cu---" }, { "entType": "CriteriaCode", "ldhId": "643243211", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243211", "rev": "_i2x65By---" }, { "entType": "CriteriaCode", "ldhId": "643243210", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243210", "rev": "_i2x65L6---" }, { "entType": "CriteriaCode", "ldhId": "643243205", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243205", "rev": "_i2x65Ny---" }, { "entType": "CriteriaCode", "ldhId": "643243202", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243202", "rev": "_i2x65IK---" }, { "entType": "CriteriaCode", "ldhId": "643243217", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243217", "rev": "_i2x642K---" }, { "entType": "CriteriaCode", "ldhId": "643243203", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243203", "rev": "_i2x65Iu---" }, { "entType": "CriteriaCode", "ldhId": "643243198", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243198", "rev": "_i2x65Se---" }, { "entType": "CriteriaCode", "ldhId": "643243196", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243196", "rev": "_i2x65Rm---" }, { "entType": "CriteriaCode", "ldhId": "643243193", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243193", "rev": "_i2x65Fu---" }, { "entType": "CriteriaCode", "ldhId": "643243207", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243207", "rev": "_i2x649K---" }, { "entType": "CriteriaCode", "ldhId": "643243206", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243206", "rev": "_i2x647e---" }, { "entType": "CriteriaCode", "ldhId": "643243201", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243201", "rev": "_i2x643a---" }, { "entType": "CriteriaCode", "ldhId": "643243197", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243197", "rev": "_i2x65-i---" } ], "Disease": [ { "entId": "MONDO:0012996", "entIri": "http://purl.obolibrary.org/obo/MONDO_0012996", "entType": "Disease", "ldhId": "467873716", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/467873716", "rev": "_kZ7xPEK---" } ], "Gene": [ { "entId": "GATM", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4175", "entType": "Gene", "ldhId": "467827462", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/467827462", "rev": "_inf5BNC--P" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "643243102", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/643243102", "rev": "_i2x64dy---" } ] }, "ldFor": { "Organization": [ { "entId": "50047", "entIri": "http://clinicalgenome.org/affiliation/50047", "entType": "Organization", "ldhId": "639508884", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/639508884", "rev": "_inf5B_G--F" } ], "SequenceVariantInterpretation": [ { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" } ] }, "ldhId": "643243095", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243095", "modified": "2024-12-03T14:46:45.207Z", "modifier": "jennifer.goldstein@unc.edu", "rev": "_i2x64Nu---" }, { "entContent": { "approvedOn": "2024-05-23T13:46:41.768Z", "description": "Cerebral Creatine Deficiency Syndromes Variant Curation Expert Panel ACMG Classification Rules Specified for GAMT (guanidinoacetate methytransferase) Summary of ACMG-AMP Criteria for GAMT Variants", "namespace": "GN026", "releaseNotes": "The following changes were made to include new guidance from the SVI on classification of splicing variants (Walker et al, 2023, PMID: 37352859) and the use of in silico data (Pejaver et al, 2022, PMID: 36413997).\n\n* A statement summarizing the use of guidance from the SVI Splicing subgroup was added to the “instructions” section for PVS1.\n* PS1\\_Moderate and PS1\\_Supporting were added to include the possible use of these codes for splicing variants, as outlined in PMID: 37352859.\n* Details on splicing assays e.g. RT-PCR were removed from PS3 because this data is now included in PVS1 (PMID: 37352859)\n* PP3\\_Strong and PP3\\_Moderate have been added to allow use of these codes at higher strength than supporting based on PMID: 36413997.\n* BP4 has been updated to include new cut-offs for REVEL and SpliceAI based on SVI guidance (PMID: 36413997, PMID: 37352859).\n* BP7 was updated to include application of this code for intronic variants (at or beyond +7/-21) with no splicing impact, and BP7\\_Strong was added to allow for use of RT-PCR data, as indicated in PMID: 37352859.\n\n**Added the following statement in PVS1 instructions:**\n\nFollow the guidance from the ClinGen SVI Splicing Subgroup capturing evidence related to predicted and observed impact on splicing (Walker et al, 2023, PMID: 37352859). Follow the decision tree outlined in Figure 5. As shown, if PVS1 is applied at any strength, PP3 should not be applied. Experimental evidence, such as RT-PCR, is used to determine the weight of PVS1; PS3 is not applied if PVS1 is applied; instead PVS1\\_Strength (RNA) is used. PS1 may also be applied for splice variants (see Table 3 in PMID: 37352859). Regarding assays to assess splicing, in patients who are compound heterozygotes for a splicing variant and another variant type that does not disrupt splicing (such as a missense variant), evidence of normal splicing is expected. Therefore, the presence of normal splice products could complicate the assessment of the impact of the splice variant.\n\n**Added the following statement under PS1:**\n\nPS1 may also be applied for splicing variants under specific circumstances (see Table 3 in PMID: 37352859).\n\n**Have now included PS1\\_Moderate:**\n\n* This criterion is applicable as for any variant resulting in the same amino acid change as a previously established likely pathogenic variant regardless of nucleotide change.\n* If the variant is in the last 3 nucleotides of an exon, further analysis using splicing site prediction algorithms (see PP3) and data from the literature (if available) is required to investigate the impact on splicing.\n* PS1\\_Moderate may also be applied for splicing variants under specific circumstances (see Table 3 in PMID: 37352859).\n\n**Have now included PS1\\_Supporting:**\n\nPS1\\_Supporting may also be applied for splicing variants under specific circumstances (see Table 3 in PMID: 37352859).\n\n**Updated PS3** to remove splicing assays as those are now included under PVS1. Therefore, PS3 is now deleted, and PS3\\_Supporting has been updated to include on in vitro enzyme assay.\n\n**For PP3,** added Pejaver et al for different strength, and removed current statement from PP3\\_Moderate (regarding splicing) as this is now included under PS1.\n\n**For BP4**, added “ REVEL score \\<0.29 for missense variants (based on guidance from Pejaver et al, 2022, PMID: 36413997).”\n\nFor BP7, added “A synonymous (silent) variant OR an intronic variant at or beyond positions +7 and -21, for which SpliceAI, [https://spliceailookup.broadinstitute.org/](https://spliceailookup.broadinstitute.org/), predicts no impact on splicing (score \\<0.1).”\n\n**Combining criteria**\n\nAdditional combinations have been added for “Likely Pathogenic” to be consistent with the Richards et al combining criteria and to include the option for PVS1 + PM2\\_Supporting -> Likely Pathogenic, as recommended by the SVI.", "releasedUnderRevision": true, "shortTitle": "Cerebral Creatine Deficiency Syndromes Specification", "specificationSource": "", "states": [ { "current": true, "event": { "modifiedBy": "jennifer.goldstein@unc.edu", "name": "cspec-released", "prevState": "Approved For Release", "timeStamp": "2024-05-23T13:46:41.768Z" }, "name": "Released" }, { "current": false, "event": { "modifiedBy": "jennifer.goldstein@unc.edu", "name": "cspec-reopened", "prevState": "Released", "timeStamp": "2023-10-11T18:00:36.255Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "jennifer.goldstein@unc.edu", "name": "pilot-rules-submitted", "prevState": "Pilot Rules In Prep", "timeStamp": "2024-02-13T19:23:33.152Z" }, "name": "Pilot Rules Submitted" }, { "current": false, "event": { "modifiedBy": "jennifer.goldstein@unc.edu", "name": "pilot-rules-withdrawn", "prevState": "Pilot Rules Submitted", "timeStamp": "2022-09-07T17:55:19.342Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "sharriso", "name": "pilot-rules-approved", "prevState": "Pilot Rules Submitted", "timeStamp": "2024-05-22T15:57:52.221Z" }, "name": "Approved For Release" } ], "tagNameSpaces": [ "026" ], "title": "ClinGen Cerebral Creatine Deficiency Syndromes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for GAMT Version 2.0.0", "version": "2.0.0", "versioned": true }, "entId": "GN026", "entType": "SequenceVariantInterpretation", "ld": { "CriteriaCode": [ { "entType": "CriteriaCode", "ldhId": "643243239", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243239", "rev": "_inf5Ate--v" }, { "entType": "CriteriaCode", "ldhId": "643243236", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243236", "rev": "_inf5Ata--i" }, { "entType": "CriteriaCode", "ldhId": "643243235", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243235", "rev": "_inf5Ati--g" }, { "entType": "CriteriaCode", "ldhId": "643243224", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243224", "rev": "_inf5Ata--l" }, { "entType": "CriteriaCode", "ldhId": "643243219", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243219", "rev": "_inf5Atm--H" }, { "entType": "CriteriaCode", "ldhId": "643243228", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243228", "rev": "_inf5Atq--O" }, { "entType": "CriteriaCode", "ldhId": "643243227", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243227", "rev": "_inf5Atq--P" }, { "entType": "CriteriaCode", "ldhId": "643243222", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243222", "rev": "_inf5Ata--j" }, { "entType": "CriteriaCode", "ldhId": "643243221", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243221", "rev": "_inf5Atm--I" }, { "entType": "CriteriaCode", "ldhId": "643243220", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243220", "rev": "_inf5Ate--1" }, { "entType": "CriteriaCode", "ldhId": "643243244", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243244", "rev": "_inf5Atq--L" }, { "entType": "CriteriaCode", "ldhId": "643243243", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243243", "rev": "_inf5Ati--d" }, { "entType": "CriteriaCode", "ldhId": "643243241", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243241", "rev": "_inf5Ata--q" }, { "entType": "CriteriaCode", "ldhId": "643243240", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243240", "rev": "_inf5Ati--e" }, { "entType": "CriteriaCode", "ldhId": "643243226", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243226", "rev": "_inf5Ate--z" }, { "entType": "CriteriaCode", "ldhId": "643243245", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243245", "rev": "_inf5Ata--n" }, { "entType": "CriteriaCode", "ldhId": "643243238", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243238", "rev": "_inf5Ate--4" }, { "entType": "CriteriaCode", "ldhId": "643243234", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243234", "rev": "_inf5Atq--M" }, { "entType": "CriteriaCode", "ldhId": "643243232", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243232", "rev": "_inf5Atq--N" }, { "entType": "CriteriaCode", "ldhId": "643243231", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243231", "rev": "_inf5Ati--i" }, { "entType": "CriteriaCode", "ldhId": "643243230", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243230", "rev": "_inf5Ate--3" }, { "entType": "CriteriaCode", "ldhId": "643243229", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243229", "rev": "_inf5Atm--G" }, { "entType": "CriteriaCode", "ldhId": "643243225", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243225", "rev": "_inf5Ata--o" }, { "entType": "CriteriaCode", "ldhId": "643243242", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243242", "rev": "_inf5Ate--t" }, { "entType": "CriteriaCode", "ldhId": "643243237", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243237", "rev": "_inf5Ati--v" }, { "entType": "CriteriaCode", "ldhId": "643243233", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243233", "rev": "_inf5Ate--x" }, { "entType": "CriteriaCode", "ldhId": "643243223", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243223", "rev": "_inf5Ati--n" }, { "entType": "CriteriaCode", "ldhId": "643243218", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243218", "rev": "_inf5Ati--p" } ], "Disease": [ { "entId": "MONDO:0012999", "entIri": "http://purl.obolibrary.org/obo/MONDO_0012999", "entType": "Disease", "ldhId": "467873663", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/467873663", "rev": "_kZ7xPEu---" } ], "Gene": [ { "entId": "GAMT", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4136", "entType": "Gene", "ldhId": "467827323", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/467827323", "rev": "_inf5BN---v" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "643243103", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/643243103", "rev": "_inf5BHa--l" } ] }, "ldFor": { "Organization": [ { "entId": "50047", "entIri": "http://clinicalgenome.org/affiliation/50047", "entType": "Organization", "ldhId": "639508884", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/639508884", "rev": "_inf5B_G--F" } ], "SequenceVariantInterpretation": [ { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" } ] }, "ldhId": "643243096", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243096", "modified": "2024-05-23T13:46:42.376Z", "modifier": "jennifer.goldstein@unc.edu", "rev": "_inf5BXO--S" }, { "entContent": { "approvedOn": "2025-04-10T14:56:24.145Z", "description": "Cerebral Creatine Deficiency Syndromes Variant Curation Expert Panel ACMG Classification Rules Specified for Solute Carrier Family 6, Member 8 (SLC6A8; Creatine Transporter) Summary of ACMG-AMP Criteria for SLC6A8 Variants", "namespace": "GN027", "releaseNotes": "Updated BS2 from “Observed in the homozygous state in a healthy adult” to “The variant is observed in ≥2 hemizygotes in gnomAD, or one or more hemizygous male(s) or homozygous female(s) who have documented normal urine creatine/creatine ratio.”", "releasedUnderRevision": true, "shortTitle": "Cerebral Creatine Deficiency Syndromes Specification", "specificationSource": "", "states": [ { "current": false, "event": { "modifiedBy": "jennifer.goldstein@unc.edu", "name": "cspec-released", "prevState": "Approved For Release", "timeStamp": "2025-04-10T14:56:24.145Z" }, "name": "Released" }, { "current": false, "event": { "modifiedBy": "mweaver", "name": "cspec-reopened", "prevState": "Released", "timeStamp": "2025-06-02T13:27:40.908Z" }, "name": "Pilot Rules In Prep" }, { "current": true, "event": { "modifiedBy": "mweaver", "name": "pilot-rules-submitted", "prevState": "Pilot Rules In Prep", "timeStamp": "2026-03-30T14:10:51.943Z" }, "name": "Pilot Rules Submitted" }, { "current": false, "event": { "modifiedBy": "mweaver", "name": "pilot-rules-withdrawn", "prevState": "Pilot Rules Submitted", "timeStamp": "2025-06-11T18:30:07.906Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "sharriso", "name": "pilot-rules-approved", "prevState": "Pilot Rules Submitted", "timeStamp": "2025-04-09T18:27:51.337Z" }, "name": "Approved For Release" }, { "current": false, "event": { "modifiedBy": "sharriso", "name": "pilot-rules-reviewed", "prevState": "Pilot Rules Submitted", "timeStamp": "2026-03-17T16:12:21.529Z" }, "name": "Pilot Rules In Prep" } ], "tagNameSpaces": [ "027" ], "title": "ClinGen Cerebral Creatine Deficiency Syndromes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SLC6A8 Version 1.2.0", "version": "1.2.0", "versioned": true }, "entId": "GN027", "entType": "SequenceVariantInterpretation", "ld": { "CriteriaCode": [ { "entType": "CriteriaCode", "ldhId": "643243253", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243253", "rev": "_jg-xuSe--A" }, { "entType": "CriteriaCode", "ldhId": "643243250", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243250", "rev": "_jg-xuTC--A" }, { "entType": "CriteriaCode", "ldhId": "643243246", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243246", "rev": "_jg-xuU6--A" }, { "entType": "CriteriaCode", "ldhId": "643243273", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243273", "rev": "_jg-xuUO--B" }, { "entType": "CriteriaCode", "ldhId": "643243268", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243268", "rev": "_jg-xuW2--A" }, { "entType": "CriteriaCode", "ldhId": "643243261", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243261", "rev": "_jg-xuTa---" }, { "entType": "CriteriaCode", "ldhId": "643243258", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243258", "rev": "_jg-xuWK--A" }, { "entType": "CriteriaCode", "ldhId": "643243257", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243257", "rev": "_jg-xuP2--A" }, { "entType": "CriteriaCode", "ldhId": "643243271", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243271", "rev": "_jg-xuS---A" }, { "entType": "CriteriaCode", "ldhId": "643243269", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243269", "rev": "_jg-xuT2--B" }, { "entType": "CriteriaCode", "ldhId": "643243263", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243263", "rev": "_jg-xuP---A" }, { "entType": "CriteriaCode", "ldhId": "643243259", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243259", "rev": "_jg-xuNK---" }, { "entType": "CriteriaCode", "ldhId": "643243251", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243251", "rev": "_jg-xuUi--B" }, { "entType": "CriteriaCode", "ldhId": "643243249", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243249", "rev": "_jg-xuPO--B" }, { "entType": "CriteriaCode", "ldhId": "643243248", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243248", "rev": "_jg-xuR---A" }, { "entType": "CriteriaCode", "ldhId": "643243247", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243247", "rev": "_jg-xuO---B" }, { "entType": "CriteriaCode", "ldhId": "643243267", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243267", "rev": "_jg-xuRW--B" }, { "entType": "CriteriaCode", "ldhId": "643243264", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243264", "rev": "_jg-xuWi--B" }, { "entType": "CriteriaCode", "ldhId": "643243262", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243262", "rev": "_jg-xuVO--A" }, { "entType": "CriteriaCode", "ldhId": "643243256", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243256", "rev": "_jg-xuV6--A" }, { "entType": "CriteriaCode", "ldhId": "643243255", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243255", "rev": "_jg-xuPm--A" }, { "entType": "CriteriaCode", "ldhId": "643243272", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243272", "rev": "_jg-xuQO--A" }, { "entType": "CriteriaCode", "ldhId": "643243270", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243270", "rev": "_jg-xuOu--A" }, { "entType": "CriteriaCode", "ldhId": "643243266", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243266", "rev": "_jg-xuQm--A" }, { "entType": "CriteriaCode", "ldhId": "643243265", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243265", "rev": "_jg-xuRq--A" }, { "entType": "CriteriaCode", "ldhId": "643243260", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243260", "rev": "_jg-xuNi--B" }, { "entType": "CriteriaCode", "ldhId": "643243254", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243254", "rev": "_jg-xuOe--A" }, { "entType": "CriteriaCode", "ldhId": "643243252", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/643243252", "rev": "_jg-xuVq--A" } ], "Disease": [ { "entId": "MONDO:0010305", "entIri": "http://purl.obolibrary.org/obo/MONDO_0010305", "entType": "Disease", "ldhId": "467873958", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/467873958", "rev": "_kZ7wsAW---" } ], "Gene": [ { "entId": "SLC6A8", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11055", "entType": "Gene", "ldhId": "467856291", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/467856291", "rev": "_inf5CFy--G" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "643243104", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/643243104", "rev": "_jg-xuGS---" } ] }, "ldFor": { "Organization": [ { "entId": "50047", "entIri": "http://clinicalgenome.org/affiliation/50047", "entType": "Organization", "ldhId": "639508884", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/639508884", "rev": "_inf5B_G--F" } ], "SequenceVariantInterpretation": [ { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" } ] }, "ldhId": "643243097", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243097", "modified": "2026-04-11T19:27:35.672Z", "modifier": "cspecAdministrator", "rev": "_lV2BhuG---" }, { "entContent": { "approvedOn": "2020-04-30T00:00:00.000Z", "hideFlag": true, "legacyFullySuperseded": false, "namespace": "GN028", "shortTitle": "Mitochondrial Disease Nuclear and Mitochondrial Variant Interpretation Guidelines ntDNA", "specificationSource": "https://www.clinicalgenome.org/affiliation/50027/docs/assertion-criteria", "states": [ { "current": true, "event": { "name": "cspec-created", "prevState": "START", "timeStamp": "2022-08-18T19:11:58.490Z" }, "name": "Pilot Rules In Prep" } ], "tagNameSpaces": [ "028" ], "title": "ClinGen Mitochondrial Diseases Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for POLG Version 1.0.0", "version": "1.0.0" }, "entId": "GN028", "entType": "SequenceVariantInterpretation", "ld": { "Disease": [ { "entId": "MONDO:0044970", "entIri": "http://purl.obolibrary.org/obo/MONDO_0044970", "entType": "Disease", "ldhId": "135642194", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642194", "rev": "_kZ7zyIC---" } ], "Gene": [ { "entId": "POLG", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9179", "entType": "Gene", "ldhId": "135641934", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/135641934", "rev": "_inf5A8S--F" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "643243105", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/643243105", "rev": "_inf5BHW--U" } ] }, "ldFor": { "Organization": [ { "entId": "50027", "entIri": "http://clinicalgenome.org/affiliation/50027", "entType": "Organization", "ldhId": "135637647", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/135637647", "rev": "_inf5B-2--A" } ], "SequenceVariantInterpretation": [ { "entId": "GN014", "entType": "SequenceVariantInterpretation", "ldhId": "135637587", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637587", "rev": "_inf5BXO--C" }, { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" } ] }, "ldhId": "643243098", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243098", "modified": "2022-08-18T19:12:02.919Z", "modifier": "cspecAdministrator", "rev": "_inf5BXi--N" }, { "entContent": { "approvedOn": "2020-04-30T00:00:00.000Z", "hideFlag": true, "legacyFullySuperseded": false, "namespace": "GN029", "shortTitle": "Mitochondrial Disease Nuclear and Mitochondrial Variant Interpretation Guidelines ntDNA", "specificationSource": "https://www.clinicalgenome.org/affiliation/50027/docs/assertion-criteria", "states": [ { "current": true, "event": { "name": "cspec-created", "prevState": "START", "timeStamp": "2022-08-18T19:12:03.420Z" }, "name": "Pilot Rules In Prep" } ], "tagNameSpaces": [ "029" ], "title": "ClinGen Mitochondrial Diseases Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for ETHE1 Version 1.0.0", "version": "1.0.0" }, "entId": "GN029", "entType": "SequenceVariantInterpretation", "ld": { "Disease": [ { "entId": "MONDO:0011229", "entIri": "http://purl.obolibrary.org/obo/MONDO_0011229", "entType": "Disease", "ldhId": "135642196", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642196", "rev": "_kZ7w4OO---" } ], "Gene": [ { "entId": "ETHE1", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23287", "entType": "Gene", "ldhId": "135641936", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/135641936", "rev": "_inf5A8---_" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "643243106", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/643243106", "rev": "_inf5BHa--H" } ] }, "ldFor": { "Organization": [ { "entId": "50027", "entIri": "http://clinicalgenome.org/affiliation/50027", "entType": "Organization", "ldhId": "135637647", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/135637647", "rev": "_inf5B-2--A" } ], "SequenceVariantInterpretation": [ { "entId": "GN014", "entType": "SequenceVariantInterpretation", "ldhId": "135637587", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637587", "rev": "_inf5BXO--C" }, { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" } ] }, "ldhId": "643243099", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243099", "modified": "2022-08-18T19:12:07.364Z", "modifier": "cspecAdministrator", "rev": "_inf5BXW--C" }, { "entContent": { "approvedOn": "2020-04-30T00:00:00.000Z", "hideFlag": true, "legacyFullySuperseded": false, "namespace": "GN030", "shortTitle": "Mitochondrial Disease Nuclear and Mitochondrial Variant Interpretation Guidelines ntDNA", "specificationSource": "https://www.clinicalgenome.org/affiliation/50027/docs/assertion-criteria", "states": [ { "current": true, "event": { "name": "cspec-created", "prevState": "START", "timeStamp": "2022-08-18T19:12:07.840Z" }, "name": "Pilot Rules In Prep" } ], "tagNameSpaces": [ "030" ], "title": "ClinGen Mitochondrial Diseases Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SLC19A3 Version 1.0.0", "version": "1.0.0" }, "entId": "GN030", "entType": "SequenceVariantInterpretation", "ld": { "Disease": [ { "entId": "MONDO:0011841", "entIri": "http://purl.obolibrary.org/obo/MONDO_0011841", "entType": "Disease", "ldhId": "135642197", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642197", "rev": "_kZ7xAD2---" } ], "Gene": [ { "entId": "SLC19A3", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16266", "entType": "Gene", "ldhId": "135641937", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/135641937", "rev": "_inf5A8---E" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "643243107", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/643243107", "rev": "_inf5BHW--Z" } ] }, "ldFor": { "Organization": [ { "entId": "50027", "entIri": "http://clinicalgenome.org/affiliation/50027", "entType": "Organization", "ldhId": "135637647", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/135637647", "rev": "_inf5B-2--A" } ], "SequenceVariantInterpretation": [ { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" }, { "entId": "GN014", "entType": "SequenceVariantInterpretation", "ldhId": "135637587", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637587", "rev": "_inf5BXO--C" } ] }, "ldhId": "643243100", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243100", "modified": "2022-08-18T19:12:11.423Z", "modifier": "cspecAdministrator", "rev": "_inf5BXW--F" }, { "entContent": { "approvedOn": "2020-04-30T00:00:00.000Z", "hideFlag": true, "legacyFullySuperseded": false, "namespace": "GN031", "shortTitle": "Mitochondrial Disease Nuclear and Mitochondrial Variant Interpretation Guidelines ntDNA", "specificationSource": "https://www.clinicalgenome.org/affiliation/50027/docs/assertion-criteria", "states": [ { "current": true, "event": { "name": "cspec-created", "prevState": "START", "timeStamp": "2022-08-18T19:12:11.889Z" }, "name": "Pilot Rules In Prep" } ], "tagNameSpaces": [ "031" ], "title": "ClinGen Mitochondrial Diseases Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for PDHA1 Version 1.0.0", "version": "1.0.0" }, "entId": "GN031", "entType": "SequenceVariantInterpretation", "ld": { "Disease": [ { "entId": "MONDO:0019169", "entIri": "http://purl.obolibrary.org/obo/MONDO_0019169", "entType": "Disease", "ldhId": "135642195", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642195", "rev": "_kZ7yidK---" } ], "Gene": [ { "entId": "PDHA1", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8806", "entType": "Gene", "ldhId": "135641935", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/135641935", "rev": "_inf5A8---E" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "643243108", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/643243108", "rev": "_inf5BHW--a" } ] }, "ldFor": { "Organization": [ { "entId": "50027", "entIri": "http://clinicalgenome.org/affiliation/50027", "entType": "Organization", "ldhId": "135637647", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/135637647", "rev": "_inf5B-2--A" } ], "SequenceVariantInterpretation": [ { "entId": "GN014", "entType": "SequenceVariantInterpretation", "ldhId": "135637587", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637587", "rev": "_inf5BXO--C" }, { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" } ] }, "ldhId": "643243101", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243101", "modified": "2022-08-18T19:12:15.742Z", "modifier": "cspecAdministrator", "rev": "_inf5BXe---" }, { "entContent": { "approvedOn": "2025-07-30T16:35:54.810Z", "description": "Updated BA1 and BS1 population frequency cutoffs.\n \n \n ", "hideFlag": false, "legacyFullySuperseded": true, "namespace": "GN032", "releaseNotes": "Modification to the population frequency cutoffs for BA1 and BS1.", "releasedUnderRevision": true, "shortTitle": "Rett and Angelman-like Disorders Variant Interpretation Guidelines", "specificationSource": "", "states": [ { "current": false, "event": { "name": "cspec-created", "prevState": "START", "timeStamp": "2022-08-18T19:12:17.106Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "name": "pilot-rules-submitted", "prevState": "Pilot Rules In Prep", "timeStamp": "2026-04-09T20:01:12.027Z" }, "name": "Pilot Rules Submitted" }, { "current": false, "event": { "name": "pilot-rules-withdrawn", "prevState": "Pilot Rules Submitted", "timeStamp": "2024-10-25T19:14:59.272Z" }, "name": "Pilot Rules In Prep" }, { "current": true, "event": { "name": "pilot-rules-approved", "prevState": "Pilot Rules Submitted", "timeStamp": "2026-04-28T20:52:44.110Z" }, "name": "Approved For Release" }, { "current": false, "event": { "name": "cspec-released", "prevState": "Approved For Release", "timeStamp": "2025-07-30T16:35:54.810Z" }, "name": "Released" }, { "current": false, "event": { "name": "cspec-reopened", "prevState": "Released", "timeStamp": "2025-11-11T20:32:03.452Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "name": "pilot-rules-reviewed", "prevState": "Pilot Rules Submitted", "timeStamp": "2025-02-12T22:10:30.336Z" }, "name": "Pilot Rules In Prep" } ], "tagNameSpaces": [ "032" ], "title": "ClinGen Rett and Angelman-like Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for TCF4 Version 5.0.0", "type": "Richards et.al., 2015 - Combining rules", "version": "5.0.0", "versioned": true }, "entId": "GN032", "entType": "SequenceVariantInterpretation", "ld": { "CriteriaCode": [ { "entType": "CriteriaCode", "ldhId": "1572176858", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572176858", "rev": "_kDuut4u---" }, { "entType": "CriteriaCode", "ldhId": "1572176856", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572176856", "rev": "_kDuut86---" }, { "entType": "CriteriaCode", "ldhId": "1572176854", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572176854", "rev": "_kDuut9O--B" }, { "entType": "CriteriaCode", "ldhId": "1572176845", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572176845", "rev": "_kDuut5S---" }, { "entType": "CriteriaCode", "ldhId": "1572176865", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572176865", "rev": "_kDuut7e---" }, { "entType": "CriteriaCode", "ldhId": "1572176864", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572176864", "rev": "_kDuuu_W---" }, { "entType": "CriteriaCode", "ldhId": "1572176853", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572176853", "rev": "_kDuut9i---" }, { "entType": "CriteriaCode", "ldhId": "1572176852", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572176852", "rev": "_kDuuu_2---" }, { "entType": "CriteriaCode", "ldhId": "1572176843", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572176843", "rev": "_kDuut6S---" }, { "entType": "CriteriaCode", "ldhId": "1572176841", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572176841", "rev": "_kDuuu-W---" }, { "entType": "CriteriaCode", "ldhId": "1572176840", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572176840", "rev": "_kDuut7----" }, { "entType": "CriteriaCode", "ldhId": "1572176838", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572176838", "rev": "_kDuuuB----" }, { "entType": "CriteriaCode", "ldhId": "1572176863", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572176863", "rev": "_kDuut4----" }, { "entType": "CriteriaCode", "ldhId": "1572176860", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572176860", "rev": "_kDuut4W---" }, { "entType": "CriteriaCode", "ldhId": "1572176859", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572176859", "rev": "_kDuuu-2---" }, { "entType": "CriteriaCode", "ldhId": "1572176848", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572176848", "rev": "_kDuuu-C---" }, { "entType": "CriteriaCode", "ldhId": "1572176846", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572176846", "rev": "_kDuut5y---" }, { "entType": "CriteriaCode", "ldhId": "1572176862", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572176862", "rev": "_kDuut7y---" }, { "entType": "CriteriaCode", "ldhId": "1572176861", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572176861", "rev": "_kDuuu_m---" }, { "entType": "CriteriaCode", "ldhId": "1572176857", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572176857", "rev": "_kDuut8m--B" }, { "entType": "CriteriaCode", "ldhId": "1572176855", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572176855", "rev": "_kDuut5m---" }, { "entType": "CriteriaCode", "ldhId": "1572176850", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572176850", "rev": "_kDuuuAS---" }, { "entType": "CriteriaCode", "ldhId": "1572176842", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572176842", "rev": "_kDuut6m---" }, { "entType": "CriteriaCode", "ldhId": "1572176839", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572176839", "rev": "_kDuuu-m---" }, { "entType": "CriteriaCode", "ldhId": "1572176851", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572176851", "rev": "_kDuut9y---" }, { "entType": "CriteriaCode", "ldhId": "1572176849", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572176849", "rev": "_kDuuuAi---" }, { "entType": "CriteriaCode", "ldhId": "1572176847", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572176847", "rev": "_kDuut5C---" }, { "entType": "CriteriaCode", "ldhId": "1572176844", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572176844", "rev": "_kDuut6C---" } ], "Disease": [ { "entId": "MONDO:0012589", "entIri": "http://purl.obolibrary.org/obo/MONDO_0012589", "entType": "Disease", "ldhId": "135642214", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642214", "rev": "_kZ7xJ0q---" } ], "Gene": [ { "entId": "TCF4", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11634", "entType": "Gene", "ldhId": "135641942", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/135641942", "rev": "_inf5A8---F" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "643243109", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/643243109", "rev": "_kDuutxy---" } ] }, "ldFor": { "Organization": [ { "entId": "50022", "entIri": "http://clinicalgenome.org/affiliation/50022", "entType": "Organization", "ldhId": "135637643", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/135637643", "rev": "_inf5B_G--W" } ], "SequenceVariantInterpretation": [ { "entId": "GN016", "entType": "SequenceVariantInterpretation", "ldhId": "135637589", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637589", "rev": "_inf5BXi--V" }, { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" } ] }, "ldhId": "643243102", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243102", "modified": "2026-04-28T20:52:44.384Z", "modifier": "tsneddon", "rev": "_lbVblsu---" }, { "entContent": { "approvedOn": "2025-07-30T16:36:49.356Z", "description": "Updated BA1 and BS1 population frequency cutoffs.", "hideFlag": false, "legacyFullySuperseded": true, "namespace": "GN033", "releaseNotes": "Modification to the population frequency cutoffs for BA1 and BS1.", "releasedUnderRevision": true, "shortTitle": "Rett and Angelman-like Disorders Variant Interpretation Guidelines", "specificationSource": "", "states": [ { "current": false, "event": { "name": "cspec-created", "prevState": "START", "timeStamp": "2022-08-18T19:12:21.126Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "name": "pilot-rules-submitted", "prevState": "Pilot Rules In Prep", "timeStamp": "2026-04-09T20:05:18.676Z" }, "name": "Pilot Rules Submitted" }, { "current": false, "event": { "name": "pilot-rules-withdrawn", "prevState": "Pilot Rules Submitted", "timeStamp": "2024-10-25T19:15:49.206Z" }, "name": "Pilot Rules In Prep" }, { "current": true, "event": { "name": "pilot-rules-approved", "prevState": "Pilot Rules Submitted", "timeStamp": "2026-04-28T20:52:21.682Z" }, "name": "Approved For Release" }, { "current": false, "event": { "name": "cspec-released", "prevState": "Approved For Release", "timeStamp": "2025-07-30T16:36:49.356Z" }, "name": "Released" }, { "current": false, "event": { "name": "cspec-reopened", "prevState": "Released", "timeStamp": "2025-11-11T20:32:20.238Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "name": "pilot-rules-reviewed", "prevState": "Pilot Rules Submitted", "timeStamp": "2025-02-12T22:20:33.926Z" }, "name": "Pilot Rules In Prep" } ], "tagNameSpaces": [ "033" ], "title": "ClinGen Rett and Angelman-like Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SLC9A6 Version 5.0.0", "type": "Richards et.al., 2015 - Combining rules", "version": "5.0.0", "versioned": true }, "entId": "GN033", "entType": "SequenceVariantInterpretation", "ld": { "CriteriaCode": [ { "entType": "CriteriaCode", "ldhId": "1572178242", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572178242", "rev": "_kDuvjGO---" }, { "entType": "CriteriaCode", "ldhId": "1572178235", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572178235", "rev": "_kDuvjMe---" }, { "entType": "CriteriaCode", "ldhId": "1572178233", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572178233", "rev": "_kDuvjE6---" }, { "entType": "CriteriaCode", "ldhId": "1572178227", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572178227", "rev": "_kDuvjJK---" }, { "entType": "CriteriaCode", "ldhId": "1572178224", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572178224", "rev": "_kDuvjJ2---" }, { "entType": "CriteriaCode", "ldhId": "1572178219", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572178219", "rev": "_kDuvjLq---" }, { "entType": "CriteriaCode", "ldhId": "1572178241", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572178241", "rev": "_kDuvjKa---" }, { "entType": "CriteriaCode", "ldhId": "1572178232", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572178232", "rev": "_kDuvjKy---" }, { "entType": "CriteriaCode", "ldhId": "1572178231", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572178231", "rev": "_kDuvjIu---" }, { "entType": "CriteriaCode", "ldhId": "1572178221", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572178221", "rev": "_kDuvjMu---" }, { "entType": "CriteriaCode", "ldhId": "1572178220", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572178220", "rev": "_kDuvjG----" }, { "entType": "CriteriaCode", "ldhId": "1572178237", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572178237", "rev": "_kDuvjMK---" }, { "entType": "CriteriaCode", "ldhId": "1572178228", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572178228", "rev": "_kDuvjI6---" }, { "entType": "CriteriaCode", "ldhId": "1572178226", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572178226", "rev": "_kDuvjJe---" }, { "entType": "CriteriaCode", "ldhId": "1572178225", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572178225", "rev": "_kDuvjL----" }, { "entType": "CriteriaCode", "ldhId": "1572178223", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572178223", "rev": "_kDuvjLW---" }, { "entType": "CriteriaCode", "ldhId": "1572178222", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572178222", "rev": "_kDuvjFm---" }, { "entType": "CriteriaCode", "ldhId": "1572178218", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572178218", "rev": "_kDuvjNC---" }, { "entType": "CriteriaCode", "ldhId": "1572178240", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572178240", "rev": "_kDuvjGe---" }, { "entType": "CriteriaCode", "ldhId": "1572178238", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572178238", "rev": "_kDuvjIS---" }, { "entType": "CriteriaCode", "ldhId": "1572178236", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572178236", "rev": "_kDuvjGy---" }, { "entType": "CriteriaCode", "ldhId": "1572178234", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572178234", "rev": "_kDuvjHK---" }, { "entType": "CriteriaCode", "ldhId": "1572178229", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572178229", "rev": "_kDuvjFO---" }, { "entType": "CriteriaCode", "ldhId": "1572178217", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572178217", "rev": "_kDuvjM----" }, { "entType": "CriteriaCode", "ldhId": "1572178244", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572178244", "rev": "_kDuvjH2---" }, { "entType": "CriteriaCode", "ldhId": "1572178243", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572178243", "rev": "_kDuvjKK---" }, { "entType": "CriteriaCode", "ldhId": "1572178239", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572178239", "rev": "_kDuvjEa---" }, { "entType": "CriteriaCode", "ldhId": "1572178230", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572178230", "rev": "_kDuvjHi---" } ], "Disease": [ { "entId": "MONDO:0010278", "entIri": "http://purl.obolibrary.org/obo/MONDO_0010278", "entType": "Disease", "ldhId": "135642212", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642212", "rev": "_kZ7wq1K---" } ], "Gene": [ { "entId": "SLC9A6", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11079", "entType": "Gene", "ldhId": "135641940", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/135641940", "rev": "_inf5A8S--C" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "643243110", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/643243110", "rev": "_kDuvj-a---" } ] }, "ldFor": { "Organization": [ { "entId": "50022", "entIri": "http://clinicalgenome.org/affiliation/50022", "entType": "Organization", "ldhId": "135637643", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/135637643", "rev": "_inf5B_G--W" } ], "SequenceVariantInterpretation": [ { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" }, { "entId": "GN016", "entType": "SequenceVariantInterpretation", "ldhId": "135637589", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637589", "rev": "_inf5BXi--V" } ] }, "ldhId": "643243103", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243103", "modified": "2026-04-28T20:52:21.856Z", "modifier": "tsneddon", "rev": "_lbVbPsq---" }, { "entContent": { "approvedOn": "2025-07-30T16:37:32.677Z", "description": "Updated BA1 and BS1 population frequency cutoffs.\n \n \n ", "hideFlag": false, "legacyFullySuperseded": true, "namespace": "GN034", "releaseNotes": "Modification to the population frequency cutoffs for BA1 and BS1.", "releasedUnderRevision": true, "shortTitle": "Rett and Angelman-like Disorders Variant Interpretation Guidelines", "specificationSource": "", "states": [ { "current": false, "event": { "name": "cspec-created", "prevState": "START", "timeStamp": "2022-08-18T19:12:25.125Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "name": "pilot-rules-submitted", "prevState": "Pilot Rules In Prep", "timeStamp": "2026-04-09T20:07:23.479Z" }, "name": "Pilot Rules Submitted" }, { "current": false, "event": { "name": "pilot-rules-withdrawn", "prevState": "Pilot Rules Submitted", "timeStamp": "2024-10-25T19:13:59.504Z" }, "name": "Pilot Rules In Prep" }, { "current": true, "event": { "name": "pilot-rules-approved", "prevState": "Pilot Rules Submitted", "timeStamp": "2026-04-28T20:52:07.758Z" }, "name": "Approved For Release" }, { "current": false, "event": { "name": "cspec-released", "prevState": "Approved For Release", "timeStamp": "2025-07-30T16:37:32.677Z" }, "name": "Released" }, { "current": false, "event": { "name": "cspec-reopened", "prevState": "Released", "timeStamp": "2025-11-11T20:32:34.600Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "name": "pilot-rules-reviewed", "prevState": "Pilot Rules Submitted", "timeStamp": "2025-02-12T22:25:27.979Z" }, "name": "Pilot Rules In Prep" } ], "tagNameSpaces": [ "034" ], "title": "ClinGen Rett and Angelman-like Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for CDKL5 Version 5.0.0", "type": "Richards et.al., 2015 - Combining rules", "version": "5.0.0", "versioned": true }, "entId": "GN034", "entType": "SequenceVariantInterpretation", "ld": { "CriteriaCode": [ { "entType": "CriteriaCode", "ldhId": "1572179062", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572179062", "rev": "_kDuwNhW---" }, { "entType": "CriteriaCode", "ldhId": "1572179059", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572179059", "rev": "_kDuwNbq---" }, { "entType": "CriteriaCode", "ldhId": "1572179055", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572179055", "rev": "_kDuwNcW---" }, { "entType": "CriteriaCode", "ldhId": "1572179053", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572179053", "rev": "_kDuwNju---" }, { "entType": "CriteriaCode", "ldhId": "1572179052", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572179052", "rev": "_kDuwNhu---" }, { "entType": "CriteriaCode", "ldhId": "1572179051", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572179051", "rev": "_kDuwNee---" }, { "entType": "CriteriaCode", "ldhId": "1572179048", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572179048", "rev": "_kDuwNe2---" }, { "entType": "CriteriaCode", "ldhId": "1572179047", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572179047", "rev": "_kDuwNie---" }, { "entType": "CriteriaCode", "ldhId": "1572179043", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572179043", "rev": "_kDuwNf6---" }, { "entType": "CriteriaCode", "ldhId": "1572179064", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572179064", "rev": "_kDuwNdi---" }, { "entType": "CriteriaCode", "ldhId": "1572179060", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572179060", "rev": "_kDuwNdy--_" }, { "entType": "CriteriaCode", "ldhId": "1572179057", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572179057", "rev": "_kDuwNeG---" }, { "entType": "CriteriaCode", "ldhId": "1572179042", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572179042", "rev": "_kDuwNgO---" }, { "entType": "CriteriaCode", "ldhId": "1572179039", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572179039", "rev": "_kDuwNga---" }, { "entType": "CriteriaCode", "ldhId": "1572179066", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572179066", "rev": "_kDuwNfm---" }, { "entType": "CriteriaCode", "ldhId": "1572179065", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572179065", "rev": "_kDuwNgy---" }, { "entType": "CriteriaCode", "ldhId": "1572179063", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572179063", "rev": "_kDuwNhK---" }, { "entType": "CriteriaCode", "ldhId": "1572179056", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572179056", "rev": "_kDuwNjS---" }, { "entType": "CriteriaCode", "ldhId": "1572179054", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572179054", "rev": "_kDuwNcu---" }, { "entType": "CriteriaCode", "ldhId": "1572179049", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572179049", "rev": "_kDuwNiO---" }, { "entType": "CriteriaCode", "ldhId": "1572179045", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572179045", "rev": "_kDuwNfO---" }, { "entType": "CriteriaCode", "ldhId": "1572179061", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572179061", "rev": "_kDuwNjG---" }, { "entType": "CriteriaCode", "ldhId": "1572179058", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572179058", "rev": "_kDuwNcC---" }, { "entType": "CriteriaCode", "ldhId": "1572179050", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572179050", "rev": "_kDuwNiC---" }, { "entType": "CriteriaCode", "ldhId": "1572179046", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572179046", "rev": "_kDuwNd----" }, { "entType": "CriteriaCode", "ldhId": "1572179044", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572179044", "rev": "_kDuwNkC---" }, { "entType": "CriteriaCode", "ldhId": "1572179041", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572179041", "rev": "_kDuwNdS---" }, { "entType": "CriteriaCode", "ldhId": "1572179040", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572179040", "rev": "_kDuwNiq---" } ], "Disease": [ { "entId": "MONDO:0100039", "entIri": "http://purl.obolibrary.org/obo/MONDO_0100039", "entType": "Disease", "ldhId": "135642215", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642215", "rev": "_kZ7z34W---" } ], "Gene": [ { "entId": "CDKL5", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11411", "entType": "Gene", "ldhId": "135641943", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/135641943", "rev": "_inf5A8----" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "643243111", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/643243111", "rev": "_kDuwNU2---" } ] }, "ldFor": { "Organization": [ { "entId": "50022", "entIri": "http://clinicalgenome.org/affiliation/50022", "entType": "Organization", "ldhId": "135637643", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/135637643", "rev": "_inf5B_G--W" } ], "SequenceVariantInterpretation": [ { "entId": "GN016", "entType": "SequenceVariantInterpretation", "ldhId": "135637589", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637589", "rev": "_inf5BXi--V" }, { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" } ] }, "ldhId": "643243104", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243104", "modified": "2026-04-28T20:52:07.928Z", "modifier": "tsneddon", "rev": "_lbVbCGO---" }, { "entContent": { "approvedOn": "2025-07-30T16:38:21.169Z", "description": "Updated BA1 and BS1 population frequency cutoffs.\n \n \n ", "hideFlag": false, "legacyFullySuperseded": true, "namespace": "GN035", "releaseNotes": "Modification to the population frequency cutoffs for BA1 and BS1.", "releasedUnderRevision": true, "shortTitle": "Rett and Angelman-like Disorders Variant Interpretation Guidelines", "specificationSource": "", "states": [ { "current": false, "event": { "name": "cspec-created", "prevState": "START", "timeStamp": "2022-08-18T19:12:29.035Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "name": "pilot-rules-submitted", "prevState": "Pilot Rules In Prep", "timeStamp": "2026-04-09T20:08:48.630Z" }, "name": "Pilot Rules Submitted" }, { "current": false, "event": { "name": "pilot-rules-withdrawn", "prevState": "Pilot Rules Submitted", "timeStamp": "2023-05-08T20:17:49.295Z" }, "name": "Pilot Rules In Prep" }, { "current": true, "event": { "name": "pilot-rules-approved", "prevState": "Pilot Rules Submitted", "timeStamp": "2026-04-28T20:51:56.857Z" }, "name": "Approved For Release" }, { "current": false, "event": { "name": "cspec-released", "prevState": "Approved For Release", "timeStamp": "2025-07-30T16:38:21.169Z" }, "name": "Released" }, { "current": false, "event": { "name": "cspec-reopened", "prevState": "Released", "timeStamp": "2026-04-03T20:06:53.492Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "name": "pilot-rules-reviewed", "prevState": "Pilot Rules Submitted", "timeStamp": "2025-02-12T22:28:06.151Z" }, "name": "Pilot Rules In Prep" } ], "tagNameSpaces": [ "035" ], "title": "ClinGen Rett and Angelman-like Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for FOXG1 Version 5.0.0", "type": "Richards et.al., 2015 - Combining rules", "version": "5.0.0", "versioned": true }, "entId": "GN035", "entType": "SequenceVariantInterpretation", "ld": { "CriteriaCode": [ { "entType": "CriteriaCode", "ldhId": "1572179860", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572179860", "rev": "_kDuw80u---" }, { "entType": "CriteriaCode", "ldhId": "1572179859", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572179859", "rev": "_kDuw8ye--_" }, { "entType": "CriteriaCode", "ldhId": "1572179855", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572179855", "rev": "_kDuw8wG---" }, { "entType": "CriteriaCode", "ldhId": "1572179835", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572179835", "rev": "_kDuw80O---" }, { "entType": "CriteriaCode", "ldhId": "1572179858", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572179858", "rev": "_kDuw8yu---" }, { "entType": "CriteriaCode", "ldhId": "1572179846", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572179846", "rev": "_kDuw8xK---" }, { "entType": "CriteriaCode", "ldhId": "1572179844", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572179844", "rev": "_kDuw822---" }, { "entType": "CriteriaCode", "ldhId": "1572179843", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572179843", "rev": "_kDuw83C---" }, { "entType": "CriteriaCode", "ldhId": "1572179839", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572179839", "rev": "_kDuw8yC---" }, { "entType": "CriteriaCode", "ldhId": "1572179838", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572179838", "rev": "_kDuw80----" }, { "entType": "CriteriaCode", "ldhId": "1572179836", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572179836", "rev": "_kDuw84G---" }, { "entType": "CriteriaCode", "ldhId": "1572179833", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572179833", "rev": "_kDuw80e---" }, { "entType": "CriteriaCode", "ldhId": "1572179857", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572179857", "rev": "_kDuw8z----" }, { "entType": "CriteriaCode", "ldhId": "1572179852", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572179852", "rev": "_kDuw83W---" }, { "entType": "CriteriaCode", "ldhId": "1572179850", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572179850", "rev": "_kDuw82C---" }, { "entType": "CriteriaCode", "ldhId": "1572179849", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572179849", "rev": "_kDuw82e---" }, { "entType": "CriteriaCode", "ldhId": "1572179842", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572179842", "rev": "_kDuw8xa---" }, { "entType": "CriteriaCode", "ldhId": "1572179841", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572179841", "rev": "_kDuw8xq---" }, { "entType": "CriteriaCode", "ldhId": "1572179840", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572179840", "rev": "_kDuw8zu---" }, { "entType": "CriteriaCode", "ldhId": "1572179854", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572179854", "rev": "_kDuw806--_" }, { "entType": "CriteriaCode", "ldhId": "1572179848", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572179848", "rev": "_kDuw8wu---" }, { "entType": "CriteriaCode", "ldhId": "1572179845", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572179845", "rev": "_kDuw8ze---" }, { "entType": "CriteriaCode", "ldhId": "1572179856", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572179856", "rev": "_kDuw8vu---" }, { "entType": "CriteriaCode", "ldhId": "1572179853", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572179853", "rev": "_kDuw8wW---" }, { "entType": "CriteriaCode", "ldhId": "1572179851", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572179851", "rev": "_kDuw81G---" }, { "entType": "CriteriaCode", "ldhId": "1572179847", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572179847", "rev": "_kDuw83u---" }, { "entType": "CriteriaCode", "ldhId": "1572179837", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572179837", "rev": "_kDuw81a---" }, { "entType": "CriteriaCode", "ldhId": "1572179834", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572179834", "rev": "_kDuw812---" } ], "Disease": [ { "entId": "MONDO:0100040", "entIri": "http://purl.obolibrary.org/obo/MONDO_0100040", "entType": "Disease", "ldhId": "135642211", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642211", "rev": "_kZ7z34i---" } ], "Gene": [ { "entId": "FOXG1", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3811", "entType": "Gene", "ldhId": "135641939", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/135641939", "rev": "_inf5A8---A" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "643243112", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/643243112", "rev": "_kDuw8p6---" } ] }, "ldFor": { "Organization": [ { "entId": "50022", "entIri": "http://clinicalgenome.org/affiliation/50022", "entType": "Organization", "ldhId": "135637643", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/135637643", "rev": "_inf5B_G--W" } ], "SequenceVariantInterpretation": [ { "entId": "GN016", "entType": "SequenceVariantInterpretation", "ldhId": "135637589", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637589", "rev": "_inf5BXi--V" }, { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" } ] }, "ldhId": "643243105", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243105", "modified": "2026-04-28T20:51:57.032Z", "modifier": "tsneddon", "rev": "_lbVa3dK---" }, { "entContent": { "approvedOn": "2025-07-30T16:39:02.882Z", "description": "Updated BA1 and BS1 population frequency cutoffs.\n ", "hideFlag": false, "legacyFullySuperseded": true, "namespace": "GN036", "releaseNotes": "Modification to the population frequency cutoffs for BA1 and BS1.", "releasedUnderRevision": true, "shortTitle": "Rett and Angelman-like Disorders Variant Interpretation Guidelines", "specificationSource": "", "states": [ { "current": false, "event": { "name": "cspec-created", "prevState": "START", "timeStamp": "2022-08-18T19:12:33.027Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "name": "pilot-rules-submitted", "prevState": "Pilot Rules In Prep", "timeStamp": "2026-04-09T20:11:54.914Z" }, "name": "Pilot Rules Submitted" }, { "current": true, "event": { "name": "pilot-rules-approved", "prevState": "Pilot Rules Submitted", "timeStamp": "2026-04-28T20:51:45.320Z" }, "name": "Approved For Release" }, { "current": false, "event": { "name": "cspec-released", "prevState": "Approved For Release", "timeStamp": "2025-07-30T16:39:02.882Z" }, "name": "Released" }, { "current": false, "event": { "name": "cspec-reopened", "prevState": "Released", "timeStamp": "2026-04-03T20:08:08.902Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "name": "pilot-rules-reviewed", "prevState": "Pilot Rules Submitted", "timeStamp": "2025-02-12T22:31:50.277Z" }, "name": "Pilot Rules In Prep" } ], "tagNameSpaces": [ "036" ], "title": "ClinGen Rett and Angelman-like Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MECP2 Version 5.0.0", "type": "Richards et.al., 2015 - Combining rules", "version": "5.0.0", "versioned": true }, "entId": "GN036", "entType": "SequenceVariantInterpretation", "ld": { "CriteriaCode": [ { "entType": "CriteriaCode", "ldhId": "1572180617", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572180617", "rev": "_kDuxlmC---" }, { "entType": "CriteriaCode", "ldhId": "1572180614", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572180614", "rev": "_kDuxln----" }, { "entType": "CriteriaCode", "ldhId": "1572180612", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572180612", "rev": "_kDuxlkq---" }, { "entType": "CriteriaCode", "ldhId": "1572180604", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572180604", "rev": "_kDuxlh6---" }, { "entType": "CriteriaCode", "ldhId": "1572180600", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572180600", "rev": "_kDuxlqG---" }, { "entType": "CriteriaCode", "ldhId": "1572180599", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572180599", "rev": "_kDuxlo----" }, { "entType": "CriteriaCode", "ldhId": "1572180597", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572180597", "rev": "_kDuxlli---" }, { "entType": "CriteriaCode", "ldhId": "1572180593", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572180593", "rev": "_kDuxlou---" }, { "entType": "CriteriaCode", "ldhId": "1572180590", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572180590", "rev": "_kDuxliu---" }, { "entType": "CriteriaCode", "ldhId": "1572180613", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572180613", "rev": "_kDuxlj----" }, { "entType": "CriteriaCode", "ldhId": "1572180611", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572180611", "rev": "_kDuxljS---" }, { "entType": "CriteriaCode", "ldhId": "1572180608", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572180608", "rev": "_kDuxljm---" }, { "entType": "CriteriaCode", "ldhId": "1572180602", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572180602", "rev": "_kDuxlnm---" }, { "entType": "CriteriaCode", "ldhId": "1572180601", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572180601", "rev": "_kDuxliK---" }, { "entType": "CriteriaCode", "ldhId": "1572180598", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572180598", "rev": "_kDuxlj2---" }, { "entType": "CriteriaCode", "ldhId": "1572180607", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572180607", "rev": "_kDuxlnW---" }, { "entType": "CriteriaCode", "ldhId": "1572180603", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572180603", "rev": "_kDuxlpu---" }, { "entType": "CriteriaCode", "ldhId": "1572180616", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572180616", "rev": "_kDuxlmW---" }, { "entType": "CriteriaCode", "ldhId": "1572180609", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572180609", "rev": "_kDuxlpe---" }, { "entType": "CriteriaCode", "ldhId": "1572180606", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572180606", "rev": "_kDuxll----" }, { "entType": "CriteriaCode", "ldhId": "1572180605", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572180605", "rev": "_kDuxllS---" }, { "entType": "CriteriaCode", "ldhId": "1572180596", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572180596", "rev": "_kDuxlqi---" }, { "entType": "CriteriaCode", "ldhId": "1572180595", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572180595", "rev": "_kDuxloW---" }, { "entType": "CriteriaCode", "ldhId": "1572180594", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572180594", "rev": "_kDuxll2---" }, { "entType": "CriteriaCode", "ldhId": "1572180592", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572180592", "rev": "_kDuxlkK---" }, { "entType": "CriteriaCode", "ldhId": "1572180591", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572180591", "rev": "_kDuxlp----" }, { "entType": "CriteriaCode", "ldhId": "1572180615", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572180615", "rev": "_kDuxlmm---" }, { "entType": "CriteriaCode", "ldhId": "1572180610", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1572180610", "rev": "_kDuxlpO---" } ], "Disease": [ { "entId": "MONDO:0010726", "entIri": "http://purl.obolibrary.org/obo/MONDO_0010726", "entType": "Disease", "ldhId": "135642210", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642210", "rev": "_kZ7wxhG---" } ], "Gene": [ { "entId": "MECP2", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6990", "entType": "Gene", "ldhId": "135641938", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/135641938", "rev": "_inf5A8---B" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "643243113", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/643243113", "rev": "_kDuxlcG---" } ] }, "ldFor": { "Organization": [ { "entId": "50022", "entIri": "http://clinicalgenome.org/affiliation/50022", "entType": "Organization", "ldhId": "135637643", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/135637643", "rev": "_inf5B_G--W" } ], "SequenceVariantInterpretation": [ { "entId": "GN016", "entType": "SequenceVariantInterpretation", "ldhId": "135637589", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637589", "rev": "_inf5BXi--V" }, { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" } ] }, "ldhId": "643243106", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243106", "modified": "2026-04-28T20:51:45.499Z", "modifier": "tsneddon", "rev": "_lbVasMe---" }, { "entContent": { "approvedOn": "2025-07-30T16:39:39.675Z", "description": "Updated BA1 and BS1 population frequency cutoffs.\n \n \n ", "hideFlag": false, "legacyFullySuperseded": true, "namespace": "GN037", "releaseNotes": "Modification to the population frequency cutoffs for BA1 and BS1.", "releasedUnderRevision": true, "shortTitle": "Rett and Angelman-like Disorders Variant Interpretation Guidelines", "specificationSource": "", "states": [ { "current": false, "event": { "name": "cspec-created", "prevState": "START", "timeStamp": "2022-08-18T19:12:36.966Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "name": "pilot-rules-submitted", "prevState": "Pilot Rules In Prep", "timeStamp": "2026-04-09T20:13:31.888Z" }, "name": "Pilot Rules Submitted" }, { "current": false, "event": { "name": "pilot-rules-withdrawn", "prevState": "Pilot Rules Submitted", "timeStamp": "2022-11-01T12:01:42.805Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "name": "pilot-rules-reviewed", "prevState": "Pilot Rules Submitted", "timeStamp": "2025-02-12T22:36:07.327Z" }, "name": "Pilot Rules In Prep" }, { "current": true, "event": { "name": "pilot-rules-approved", "prevState": "Pilot Rules Submitted", "timeStamp": "2026-04-28T20:51:25.082Z" }, "name": "Approved For Release" }, { "current": false, "event": { "name": "cspec-released", "prevState": "Approved For Release", "timeStamp": "2025-07-30T16:39:39.675Z" }, "name": "Released" }, { "current": false, "event": { "name": "cspec-reopened", "prevState": "Released", "timeStamp": "2026-04-03T20:09:50.208Z" }, "name": "Pilot Rules In Prep" } ], "tagNameSpaces": [ "037" ], "title": "ClinGen Rett and Angelman-like Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for UBE3A Version 6.0.0", "type": "Richards et.al., 2015 - Combining rules", "version": "6.0.0", "versioned": true }, "entId": "GN037", "entType": "SequenceVariantInterpretation", "ld": { "CriteriaCode": [ { "entType": "CriteriaCode", "ldhId": "1533266908", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1533266908", "rev": "_kDuyJgu---" }, { "entType": "CriteriaCode", "ldhId": "1533266905", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1533266905", "rev": "_kDuyJhu---" }, { "entType": "CriteriaCode", "ldhId": "1533266895", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1533266895", "rev": "_kDuyJcK---" }, { "entType": "CriteriaCode", "ldhId": "1533266891", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1533266891", "rev": "_kDuyJce---" }, { "entType": "CriteriaCode", "ldhId": "1533266888", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1533266888", "rev": "_kDuyJeK---" }, { "entType": "CriteriaCode", "ldhId": "1533266887", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1533266887", "rev": "_kDuyJcu---" }, { "entType": "CriteriaCode", "ldhId": "1533266904", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1533266904", "rev": "_kDuyJey---" }, { "entType": "CriteriaCode", "ldhId": "1533266898", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1533266898", "rev": "_kDuyJb6---" }, { "entType": "CriteriaCode", "ldhId": "1533266892", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1533266892", "rev": "_kDuyJi6---" }, { "entType": "CriteriaCode", "ldhId": "1533266890", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1533266890", "rev": "_kDuyJfm---" }, { "entType": "CriteriaCode", "ldhId": "1533266885", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1533266885", "rev": "_kDuyJaa---" }, { "entType": "CriteriaCode", "ldhId": "1533266906", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1533266906", "rev": "_kDuyJha---" }, { "entType": "CriteriaCode", "ldhId": "1533266901", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1533266901", "rev": "_kDuyJbm---" }, { "entType": "CriteriaCode", "ldhId": "1533266884", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1533266884", "rev": "_kDuyJc6---" }, { "entType": "CriteriaCode", "ldhId": "1533266883", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1533266883", "rev": "_kDuyJga---" }, { "entType": "CriteriaCode", "ldhId": "1533266909", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1533266909", "rev": "_kDuyJau---" }, { "entType": "CriteriaCode", "ldhId": "1533266903", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1533266903", "rev": "_kDuyJbO---" }, { "entType": "CriteriaCode", "ldhId": "1533266900", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1533266900", "rev": "_kDuyJfC---" }, { "entType": "CriteriaCode", "ldhId": "1533266899", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1533266899", "rev": "_kDuyJZ6---" }, { "entType": "CriteriaCode", "ldhId": "1533266897", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1533266897", "rev": "_kDuyJdi---" }, { "entType": "CriteriaCode", "ldhId": "1533266894", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1533266894", "rev": "_kDuyJiG---" }, { "entType": "CriteriaCode", "ldhId": "1533266889", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1533266889", "rev": "_kDuyJdy---" }, { "entType": "CriteriaCode", "ldhId": "1533266882", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1533266882", "rev": "_kDuyJei---" }, { "entType": "CriteriaCode", "ldhId": "1533266907", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1533266907", "rev": "_kDuyJhC---" }, { "entType": "CriteriaCode", "ldhId": "1533266902", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1533266902", "rev": "_kDuyJdO---" }, { "entType": "CriteriaCode", "ldhId": "1533266896", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1533266896", "rev": "_kDuyJfW---" }, { "entType": "CriteriaCode", "ldhId": "1533266893", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1533266893", "rev": "_kDuyJim---" }, { "entType": "CriteriaCode", "ldhId": "1533266886", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1533266886", "rev": "_kDuyJgC---" } ], "Disease": [ { "entId": "MONDO:0007113", "entIri": "http://purl.obolibrary.org/obo/MONDO_0007113", "entType": "Disease", "ldhId": "135642213", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642213", "rev": "_kZ7wCmC---" } ], "Gene": [ { "entId": "UBE3A", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12496", "entType": "Gene", "ldhId": "135641941", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/135641941", "rev": "_inf5A8---H" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "643243114", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/643243114", "rev": "_kDuyJTu---" } ] }, "ldFor": { "Organization": [ { "entId": "50022", "entIri": "http://clinicalgenome.org/affiliation/50022", "entType": "Organization", "ldhId": "135637643", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/135637643", "rev": "_inf5B_G--W" } ], "SequenceVariantInterpretation": [ { "entId": "GN016", "entType": "SequenceVariantInterpretation", "ldhId": "135637589", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637589", "rev": "_inf5BXi--V" }, { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" } ] }, "ldhId": "643243107", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243107", "modified": "2026-04-28T20:51:25.352Z", "modifier": "tsneddon", "rev": "_lbVaYha---" }, { "entContent": { "approvedOn": "2024-12-03T00:07:09.566Z", "description": "These are the ACMG/AMP variant classification specifications developed by the RASopathy VCEP for SHOC2.", "hideFlag": false, "legacyFullySuperseded": true, "namespace": "GN038", "notes": "These criteria should only be used to classify germline variants potentially associated with a RASopathy phenotype. Please note that these adapted criteria are not currently designed to classify variants relative to non-RASopathy phenotypes (e.g. loss of function variants in PTPN11 related to metachondromatosis); however, information about these other genotype:phenotype correlations are noted within the supplemental material. These criteria are also not designed to classify somatic variation in these genes. It is well-known that information about known somatic mutations can be utilized as supporting evidence for classifying variants relative to the RASopathy spectrum disorders given the disease mechanisms are directly correlated. Future initiatives in conjunction with the ClinGen somatic working group will aim to define this relationship in subsequent versions of this documentation. Currently, specific phenotype:genotype correlations regarding somatic variants should not be used as evidence to support germline pathogenicity.", "references": [ { "source": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/29493581" } ], "releaseNotes": "Submitting Pilot Rules. All pilot variants are attached in the LZTR1 submission. “Observed in ≥5 probands” removed from PM5 at Moderate strength.", "releasedUnderRevision": true, "shortTitle": "ACMG variant classification (RASopathy)", "specificationSource": "", "states": [ { "current": false, "event": { "modifiedBy": "cspecAdministrator", "name": "cspec-created", "prevState": "START", "timeStamp": "2022-08-18T19:12:41.717Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "RFWebb", "name": "pilot-rules-submitted", "prevState": "Pilot Rules In Prep", "timeStamp": "2024-12-02T20:47:48.895Z" }, "name": "Pilot Rules Submitted" }, { "current": false, "event": { "modifiedBy": "RFWebb", "name": "pilot-rules-withdrawn", "prevState": "Pilot Rules Submitted", "timeStamp": "2023-06-07T18:16:53.504Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "cspecAdministrator", "name": "pilot-rules-moved", "prevState": "Pilot Rules Submitted", "timeStamp": "2023-07-19T17:47:13.401Z" }, "name": "Classification Rules In Prep" }, { "current": false, "event": { "modifiedBy": "cspecAdministrator", "name": "classified-rules-moved", "prevState": "Classification Rules In Prep", "timeStamp": "2023-07-19T17:47:13.401Z" }, "name": "Classification Rules Submitted" }, { "current": false, "event": { "modifiedBy": "sharriso", "name": "classified-rules-approved", "prevState": "Classification Rules Submitted", "timeStamp": "2023-09-06T21:11:10.967Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "sharriso", "name": "pilot-rules-reviewed", "prevState": "Pilot Rules Submitted", "timeStamp": "2024-06-11T16:02:31.933Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "abyrne", "name": "pilot-rules-approved", "prevState": "Pilot Rules Submitted", "timeStamp": "2024-12-02T23:39:07.366Z" }, "name": "Approved For Release" }, { "current": true, "event": { "modifiedBy": "RFWebb", "name": "cspec-released", "prevState": "Approved For Release", "timeStamp": "2024-12-03T00:07:09.566Z" }, "name": "Released" }, { "current": false, "event": { "modifiedBy": "RFWebb", "name": "cspec-reopened", "prevState": "Released", "timeStamp": "2024-12-02T20:46:20.395Z" }, "name": "Pilot Rules In Prep" } ], "tagNameSpaces": [ "038" ], "title": "ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SHOC2 Version 2.3.0", "version": "2.3.0", "versioned": true }, "entId": "GN038", "entType": "SequenceVariantInterpretation", "ld": { "CriteriaCode": [ { "created": "2024-08-03T01:22:42.658Z", "entType": "CriteriaCode", "ldhId": "1828333121", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828333121", "rev": "_i2lVoFG---" }, { "created": "2024-08-03T01:22:42.658Z", "entType": "CriteriaCode", "ldhId": "1828333118", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828333118", "rev": "_i2lVoG----" }, { "created": "2024-08-03T01:22:42.658Z", "entType": "CriteriaCode", "ldhId": "1828333113", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828333113", "rev": "_i2lVoWu---" }, { "created": "2024-08-03T01:22:42.658Z", "entType": "CriteriaCode", "ldhId": "1828333110", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828333110", "rev": "_i2lVn8y---" }, { "created": "2024-08-03T01:22:42.658Z", "entType": "CriteriaCode", "ldhId": "1828333101", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828333101", "rev": "_i2lVoHu---" }, { "created": "2024-08-03T01:22:42.658Z", "entType": "CriteriaCode", "ldhId": "1828333099", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828333099", "rev": "_i2lVoTm---" }, { "created": "2024-08-03T01:22:42.658Z", "entType": "CriteriaCode", "ldhId": "1828333098", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828333098", "rev": "_i2lVoCa---" }, { "created": "2024-08-03T01:22:42.658Z", "entType": "CriteriaCode", "ldhId": "1828333115", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828333115", "rev": "_i2lVoVi---" }, { "created": "2024-08-03T01:22:42.658Z", "entType": "CriteriaCode", "ldhId": "1828333105", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828333105", "rev": "_i2lVoAq---" }, { "created": "2024-08-03T01:22:42.658Z", "entType": "CriteriaCode", "ldhId": "1828333103", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828333103", "rev": "_i2lVoSy---" }, { "created": "2024-08-03T01:22:42.658Z", "entType": "CriteriaCode", "ldhId": "1828333119", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828333119", "rev": "_i2lVoKK---" }, { "created": "2024-08-03T01:22:42.658Z", "entType": "CriteriaCode", "ldhId": "1828333100", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828333100", "rev": "_i2lVoBW---" }, { "created": "2024-08-03T01:22:42.658Z", "entType": "CriteriaCode", "ldhId": "1828333095", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828333095", "rev": "_i2lVoXe---" }, { "created": "2024-08-03T01:22:42.658Z", "entType": "CriteriaCode", "ldhId": "1828333117", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828333117", "rev": "_i2lVoGu---" }, { "created": "2024-08-03T01:22:42.658Z", "entType": "CriteriaCode", "ldhId": "1828333116", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828333116", "rev": "_i2lVoOK---" }, { "created": "2024-08-03T01:22:42.658Z", "entType": "CriteriaCode", "ldhId": "1828333112", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828333112", "rev": "_i2lVoP----" }, { "created": "2024-08-03T01:22:42.658Z", "entType": "CriteriaCode", "ldhId": "1828333104", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828333104", "rev": "_i2lVoKy---" }, { "created": "2024-08-03T01:22:42.658Z", "entType": "CriteriaCode", "ldhId": "1828333096", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828333096", "rev": "_i2lVoUm---" }, { "created": "2024-08-03T01:22:42.658Z", "entType": "CriteriaCode", "ldhId": "1828333120", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828333120", "rev": "_i2lVoI6---" }, { "created": "2024-08-03T01:22:42.658Z", "entType": "CriteriaCode", "ldhId": "1828333114", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828333114", "rev": "_i2lVn7u---" }, { "created": "2024-08-03T01:22:42.658Z", "entType": "CriteriaCode", "ldhId": "1828333111", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828333111", "rev": "_i2lVoQS---" }, { "created": "2024-08-03T01:22:42.658Z", "entType": "CriteriaCode", "ldhId": "1828333109", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828333109", "rev": "_i2lVoQ2--A" }, { "created": "2024-08-03T01:22:42.658Z", "entType": "CriteriaCode", "ldhId": "1828333108", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828333108", "rev": "_i2lVn9u---" }, { "created": "2024-08-03T01:22:42.658Z", "entType": "CriteriaCode", "ldhId": "1828333107", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828333107", "rev": "_i2lVo_a---" }, { "created": "2024-08-03T01:22:42.658Z", "entType": "CriteriaCode", "ldhId": "1828333106", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828333106", "rev": "_i2lVoR2---" }, { "created": "2024-08-03T01:22:42.658Z", "entType": "CriteriaCode", "ldhId": "1828333102", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828333102", "rev": "_i2lVoLy---" }, { "created": "2024-08-03T01:22:42.658Z", "entType": "CriteriaCode", "ldhId": "1828333097", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828333097", "rev": "_i2lVoNS---" }, { "created": "2024-08-03T01:22:42.658Z", "entType": "CriteriaCode", "ldhId": "1828333094", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828333094", "rev": "_i2lVoDa---" } ], "Disease": [ { "entId": "MONDO:0021060", "entIri": "http://purl.obolibrary.org/obo/MONDO_0021060", "entType": "Disease", "ldhId": "135642022", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642022", "rev": "_kZ7y8AC---" }, { "entId": "MONDO:0021060", "entIri": "http://purl.obolibrary.org/obo/MONDO_0021060", "entType": "Disease", "ldhId": "135642020", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642020", "rev": "_inf5Bjm--c" } ], "Gene": [ { "entId": "SHOC2", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15454", "entType": "Gene", "ldhId": "135641811", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/135641811", "rev": "_inf5A8S--J" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "643243115", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/643243115", "rev": "_i2lVnhO---" } ] }, "ldFor": { "Organization": [ { "entId": "50021", "entIri": "http://clinicalgenome.org/affiliation/50021", "entType": "Organization", "ldhId": "135637642", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/135637642", "rev": "_inf5B_G--D" } ], "SequenceVariantInterpretation": [ { "entId": "GN004", "entType": "SequenceVariantInterpretation", "ldhId": "135637576", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637576", "rev": "_inf5BXW--Z" }, { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" } ] }, "ldhId": "643243108", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243108", "modified": "2024-12-03T00:07:11.286Z", "modifier": "RFWebb", "rev": "_i2lVnNC---" }, { "entContent": { "approvedOn": "2024-12-03T00:08:03.746Z", "description": "These are the ACMG/AMP variant classification specifications developed by the RASopathy VCEP for NRAS.", "hideFlag": false, "legacyFullySuperseded": true, "namespace": "GN039", "notes": "These criteria should only be used to classify germline variants potentially associated with a RASopathy phenotype. Please note that these adapted criteria are not currently designed to classify variants relative to non-RASopathy phenotypes (e.g. loss of function variants in PTPN11 related to metachondromatosis); however, information about these other genotype:phenotype correlations are noted within the supplemental material. These criteria are also not designed to classify somatic variation in these genes. It is well-known that information about known somatic mutations can be utilized as supporting evidence for classifying variants relative to the RASopathy spectrum disorders given the disease mechanisms are directly correlated. Future initiatives in conjunction with the ClinGen somatic working group will aim to define this relationship in subsequent versions of this documentation. Currently, specific phenotype:genotype correlations regarding somatic variants should not be used as evidence to support germline pathogenicity.", "references": [ { "source": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/29493581" } ], "releaseNotes": "Submitting Pilot Rules. All pilot variants are attached in the LZTR1 submission. “Observed in ≥5 probands” removed from PM5 at Moderate strength.", "releasedUnderRevision": true, "shortTitle": "ACMG variant classification (RASopathy)", "specificationSource": "", "states": [ { "current": false, "event": { "name": "cspec-created", "prevState": "START", "timeStamp": "2022-08-18T19:12:45.478Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "name": "pilot-rules-submitted", "prevState": "Pilot Rules In Prep", "timeStamp": "2024-12-02T20:49:35.627Z" }, "name": "Pilot Rules Submitted" }, { "current": false, "event": { "name": "pilot-rules-withdrawn", "prevState": "Pilot Rules Submitted", "timeStamp": "2023-06-07T18:15:00.296Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "name": "pilot-rules-moved", "prevState": "Pilot Rules Submitted", "timeStamp": "2023-07-19T18:12:39.958Z" }, "name": "Classification Rules In Prep" }, { "current": false, "event": { "name": "classified-rules-moved", "prevState": "Classification Rules In Prep", "timeStamp": "2023-07-19T18:12:39.958Z" }, "name": "Classification Rules Submitted" }, { "current": false, "event": { "name": "classified-rules-approved", "prevState": "Classification Rules Submitted", "timeStamp": "2023-09-06T21:11:27.125Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "name": "pilot-rules-reviewed", "prevState": "Pilot Rules Submitted", "timeStamp": "2024-06-11T16:04:34.945Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "name": "pilot-rules-approved", "prevState": "Pilot Rules Submitted", "timeStamp": "2024-12-02T23:40:19.408Z" }, "name": "Approved For Release" }, { "current": false, "event": { "name": "cspec-released", "prevState": "Approved For Release", "timeStamp": "2024-12-03T00:08:03.746Z" }, "name": "Released" }, { "current": true, "event": { "name": "cspec-reopened", "prevState": "Released", "timeStamp": "2026-01-15T17:28:48.916Z" }, "name": "Pilot Rules In Prep" } ], "tagNameSpaces": [ "039" ], "title": "ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for NRAS Version 2.3.0", "version": "2.3.0", "versioned": true }, "entId": "GN039", "entType": "SequenceVariantInterpretation", "ld": { "CriteriaCode": [ { "created": "2024-08-03T01:21:55.372Z", "entType": "CriteriaCode", "ldhId": "1828332360", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828332360", "rev": "_i2lWcfS---" }, { "created": "2024-08-03T01:21:55.372Z", "entType": "CriteriaCode", "ldhId": "1828332358", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828332358", "rev": "_i2lWcgq---" }, { "created": "2024-08-03T01:21:55.372Z", "entType": "CriteriaCode", "ldhId": "1828332357", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828332357", "rev": "_i2lWcvm---" }, { "created": "2024-08-03T01:21:55.372Z", "entType": "CriteriaCode", "ldhId": "1828332341", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828332341", "rev": "_i2lWcke---" }, { "created": "2024-08-03T01:21:55.372Z", "entType": "CriteriaCode", "ldhId": "1828332355", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828332355", "rev": "_i2lWcnW---" }, { "created": "2024-08-03T01:21:55.372Z", "entType": "CriteriaCode", "ldhId": "1828332353", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828332353", "rev": "_i2lWc5----" }, { "created": "2024-08-03T01:21:55.372Z", "entType": "CriteriaCode", "ldhId": "1828332352", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828332352", "rev": "_i2lWc1W---" }, { "created": "2024-08-03T01:21:55.372Z", "entType": "CriteriaCode", "ldhId": "1828332350", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828332350", "rev": "_i2lWcw2---" }, { "created": "2024-08-03T01:21:55.372Z", "entType": "CriteriaCode", "ldhId": "1828332344", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828332344", "rev": "_i2lWcjC---" }, { "created": "2024-08-03T01:21:55.372Z", "entType": "CriteriaCode", "ldhId": "1828332342", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828332342", "rev": "_i2lWcrq---" }, { "created": "2024-08-03T01:21:55.372Z", "entType": "CriteriaCode", "ldhId": "1828332337", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828332337", "rev": "_i2lWczW---" }, { "created": "2024-08-03T01:21:55.372Z", "entType": "CriteriaCode", "ldhId": "1828332361", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828332361", "rev": "_i2lWcuu---" }, { "created": "2024-08-03T01:21:55.372Z", "entType": "CriteriaCode", "ldhId": "1828332359", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828332359", "rev": "_i2lWc0u---" }, { "created": "2024-08-03T01:21:55.372Z", "entType": "CriteriaCode", "ldhId": "1828332346", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828332346", "rev": "_i2lWc3m---" }, { "created": "2024-08-03T01:21:55.372Z", "entType": "CriteriaCode", "ldhId": "1828332345", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828332345", "rev": "_i2lWc6K---" }, { "created": "2024-08-03T01:21:55.372Z", "entType": "CriteriaCode", "ldhId": "1828332340", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828332340", "rev": "_i2lWclG---" }, { "created": "2024-08-03T01:21:55.372Z", "entType": "CriteriaCode", "ldhId": "1828332362", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828332362", "rev": "_i2lWcte---" }, { "created": "2024-08-03T01:21:55.372Z", "entType": "CriteriaCode", "ldhId": "1828332356", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828332356", "rev": "_i2lWchS---" }, { "created": "2024-08-03T01:21:55.372Z", "entType": "CriteriaCode", "ldhId": "1828332354", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828332354", "rev": "_i2lWcoO---" }, { "created": "2024-08-03T01:21:55.372Z", "entType": "CriteriaCode", "ldhId": "1828332351", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828332351", "rev": "_i2lWc2a---" }, { "created": "2024-08-03T01:21:55.372Z", "entType": "CriteriaCode", "ldhId": "1828332349", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828332349", "rev": "_i2lWcxe--_" }, { "created": "2024-08-03T01:21:55.372Z", "entType": "CriteriaCode", "ldhId": "1828332336", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828332336", "rev": "_i2lWcmK---" }, { "created": "2024-08-03T01:21:55.372Z", "entType": "CriteriaCode", "ldhId": "1828332363", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828332363", "rev": "_i2lWcsu---" }, { "created": "2024-08-03T01:21:55.372Z", "entType": "CriteriaCode", "ldhId": "1828332348", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828332348", "rev": "_i2lWcpW---" }, { "created": "2024-08-03T01:21:55.372Z", "entType": "CriteriaCode", "ldhId": "1828332347", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828332347", "rev": "_i2lWciG---" }, { "created": "2024-08-03T01:21:55.372Z", "entType": "CriteriaCode", "ldhId": "1828332343", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828332343", "rev": "_i2lWcqq---" }, { "created": "2024-08-03T01:21:55.372Z", "entType": "CriteriaCode", "ldhId": "1828332339", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828332339", "rev": "_i2lWcy2---" }, { "created": "2024-08-03T01:21:55.372Z", "entType": "CriteriaCode", "ldhId": "1828332338", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828332338", "rev": "_i2lWc4G---" } ], "Disease": [ { "entId": "MONDO:0021060", "entIri": "http://purl.obolibrary.org/obo/MONDO_0021060", "entType": "Disease", "ldhId": "135642022", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642022", "rev": "_kZ7y8AC---" }, { "entId": "MONDO:0021060", "entIri": "http://purl.obolibrary.org/obo/MONDO_0021060", "entType": "Disease", "ldhId": "135642042", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642042", "rev": "_iysfmna---" }, { "entId": "MONDO:0021060", "entIri": "http://purl.obolibrary.org/obo/MONDO_0021060", "entType": "Disease", "ldhId": "135642020", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642020", "rev": "_inf5Bjm--c" } ], "Gene": [ { "entId": "NRAS", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7989", "entType": "Gene", "ldhId": "135641812", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/135641812", "rev": "_inf5A8---D" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "643243116", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/643243116", "rev": "_i2lWcJ6--A" } ] }, "ldFor": { "Organization": [ { "entId": "50021", "entIri": "http://clinicalgenome.org/affiliation/50021", "entType": "Organization", "ldhId": "135637642", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/135637642", "rev": "_inf5B_G--D" } ], "SequenceVariantInterpretation": [ { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" }, { "entId": "GN004", "entType": "SequenceVariantInterpretation", "ldhId": "135637576", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637576", "rev": "_inf5BXW--Z" } ] }, "ldhId": "643243109", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243109", "modified": "2026-01-15T17:28:49.146Z", "modifier": "hdziadzio", "rev": "_k6Ix4Oy---" }, { "entContent": { "approvedOn": "2024-12-03T02:17:30.288Z", "description": "These are the ACMG/AMP variant classification specifications developed by the RASopathy VCEP for RAF1.", "hideFlag": false, "legacyFullySuperseded": true, "namespace": "GN040", "notes": "These criteria should only be used to classify germline variants potentially associated with a RASopathy phenotype. Please note that these adapted criteria are not currently designed to classify variants relative to non-RASopathy phenotypes (e.g. loss of function variants in PTPN11 related to metachondromatosis); however, information about these other genotype:phenotype correlations are noted within the supplemental material. These criteria are also not designed to classify somatic variation in these genes. It is well-known that information about known somatic mutations can be utilized as supporting evidence for classifying variants relative to the RASopathy spectrum disorders given the disease mechanisms are directly correlated. Future initiatives in conjunction with the ClinGen somatic working group will aim to define this relationship in subsequent versions of this documentation. Currently, specific phenotype:genotype correlations regarding somatic variants should not be used as evidence to support germline pathogenicity.", "references": [ { "source": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/29493581" } ], "releaseNotes": "Submitting Pilot Rules. All pilot variants are attached in the LZTR1 submission. “Observed in ≥5 probands” removed from PM5 at Moderate strength.", "releasedUnderRevision": true, "shortTitle": "ACMG variant classification (RASopathy)", "specificationSource": "", "states": [ { "current": false, "event": { "modifiedBy": "cspecAdministrator", "name": "cspec-created", "prevState": "START", "timeStamp": "2022-08-18T19:12:49.407Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "RFWebb", "name": "pilot-rules-submitted", "prevState": "Pilot Rules In Prep", "timeStamp": "2024-12-02T21:06:37.965Z" }, "name": "Pilot Rules Submitted" }, { "current": false, "event": { "modifiedBy": "RFWebb", "name": "pilot-rules-withdrawn", "prevState": "Pilot Rules Submitted", "timeStamp": "2023-06-07T18:31:56.497Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "cspecAdministrator", "name": "pilot-rules-moved", "prevState": "Pilot Rules Submitted", "timeStamp": "2023-07-19T17:47:38.972Z" }, "name": "Classification Rules In Prep" }, { "current": false, "event": { "modifiedBy": "cspecAdministrator", "name": "classified-rules-moved", "prevState": "Classification Rules In Prep", "timeStamp": "2023-07-19T17:47:38.972Z" }, "name": "Classification Rules Submitted" }, { "current": false, "event": { "modifiedBy": "sharriso", "name": "classified-rules-approved", "prevState": "Classification Rules Submitted", "timeStamp": "2023-09-06T21:11:39.602Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "sharriso", "name": "pilot-rules-reviewed", "prevState": "Pilot Rules Submitted", "timeStamp": "2024-06-11T16:06:06.830Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "abyrne", "name": "pilot-rules-approved", "prevState": "Pilot Rules Submitted", "timeStamp": "2024-12-02T23:41:01.439Z" }, "name": "Approved For Release" }, { "current": true, "event": { "modifiedBy": "RFWebb", "name": "cspec-released", "prevState": "Approved For Release", "timeStamp": "2024-12-03T02:17:30.288Z" }, "name": "Released" }, { "current": false, "event": { "modifiedBy": "RFWebb", "name": "cspec-reopened", "prevState": "Released", "timeStamp": "2024-12-02T21:05:59.985Z" }, "name": "Pilot Rules In Prep" } ], "tagNameSpaces": [ "040" ], "title": "ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for RAF1 Version 2.3.0", "version": "2.3.0", "versioned": true }, "entId": "GN040", "entType": "SequenceVariantInterpretation", "ld": { "CriteriaCode": [ { "created": "2024-08-03T01:21:07.500Z", "entType": "CriteriaCode", "ldhId": "1828331592", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828331592", "rev": "_i2nM9hS---" }, { "created": "2024-08-03T01:21:07.500Z", "entType": "CriteriaCode", "ldhId": "1828331591", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828331591", "rev": "_i2nM9lW---" }, { "created": "2024-08-03T01:21:07.500Z", "entType": "CriteriaCode", "ldhId": "1828331582", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828331582", "rev": "_i2nM9tm---" }, { "created": "2024-08-03T01:21:07.500Z", "entType": "CriteriaCode", "ldhId": "1828331580", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828331580", "rev": "_i2nM9zy---" }, { "created": "2024-08-03T01:21:07.500Z", "entType": "CriteriaCode", "ldhId": "1828331600", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828331600", "rev": "_i2nM9bS---" }, { "created": "2024-08-03T01:21:07.500Z", "entType": "CriteriaCode", "ldhId": "1828331597", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828331597", "rev": "_i2nM9va---" }, { "created": "2024-08-03T01:21:07.500Z", "entType": "CriteriaCode", "ldhId": "1828331596", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828331596", "rev": "_i2nM9jm---" }, { "created": "2024-08-03T01:21:07.500Z", "entType": "CriteriaCode", "ldhId": "1828331593", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828331593", "rev": "_i2nM9ga---" }, { "created": "2024-08-03T01:21:07.500Z", "entType": "CriteriaCode", "ldhId": "1828331590", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828331590", "rev": "_i2nM9mK---" }, { "created": "2024-08-03T01:21:07.500Z", "entType": "CriteriaCode", "ldhId": "1828331588", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828331588", "rev": "_i2nM9oa---" }, { "created": "2024-08-03T01:21:07.500Z", "entType": "CriteriaCode", "ldhId": "1828331585", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828331585", "rev": "_i2nM9xG--F" }, { "created": "2024-08-03T01:21:07.500Z", "entType": "CriteriaCode", "ldhId": "1828331576", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828331576", "rev": "_i2nM91m---" }, { "created": "2024-08-03T01:21:07.500Z", "entType": "CriteriaCode", "ldhId": "1828331601", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828331601", "rev": "_i2nM9sy---" }, { "created": "2024-08-03T01:21:07.500Z", "entType": "CriteriaCode", "ldhId": "1828331599", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828331599", "rev": "_i2nM9ea---" }, { "created": "2024-08-03T01:21:07.500Z", "entType": "CriteriaCode", "ldhId": "1828331587", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828331587", "rev": "_i2nM9pm---" }, { "created": "2024-08-03T01:21:07.500Z", "entType": "CriteriaCode", "ldhId": "1828331586", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828331586", "rev": "_i2nM9wm---" }, { "created": "2024-08-03T01:21:07.500Z", "entType": "CriteriaCode", "ldhId": "1828331584", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828331584", "rev": "_i2nM9yK--K" }, { "created": "2024-08-03T01:21:07.500Z", "entType": "CriteriaCode", "ldhId": "1828331581", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828331581", "rev": "_i2nM9iS---" }, { "created": "2024-08-03T01:21:07.500Z", "entType": "CriteriaCode", "ldhId": "1828331578", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828331578", "rev": "_i2nM91----" }, { "created": "2024-08-03T01:21:07.500Z", "entType": "CriteriaCode", "ldhId": "1828331595", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828331595", "rev": "_i2nM9ku---" }, { "created": "2024-08-03T01:21:07.500Z", "entType": "CriteriaCode", "ldhId": "1828331594", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828331594", "rev": "_i2nM9fu---" }, { "created": "2024-08-03T01:21:07.500Z", "entType": "CriteriaCode", "ldhId": "1828331589", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828331589", "rev": "_i2nM9nm---" }, { "created": "2024-08-03T01:21:07.500Z", "entType": "CriteriaCode", "ldhId": "1828331583", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828331583", "rev": "_i2nM9zG--B" }, { "created": "2024-08-03T01:21:07.500Z", "entType": "CriteriaCode", "ldhId": "1828331602", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828331602", "rev": "_i2nM9r2---" }, { "created": "2024-08-03T01:21:07.500Z", "entType": "CriteriaCode", "ldhId": "1828331598", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828331598", "rev": "_i2nM9ca---" }, { "created": "2024-08-03T01:21:07.500Z", "entType": "CriteriaCode", "ldhId": "1828331579", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828331579", "rev": "_i2nM9q6---" }, { "created": "2024-08-03T01:21:07.500Z", "entType": "CriteriaCode", "ldhId": "1828331577", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828331577", "rev": "_i2nM9ua---" }, { "created": "2024-08-03T01:21:07.500Z", "entType": "CriteriaCode", "ldhId": "1828331575", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828331575", "rev": "_i2nM9dy---" } ], "Disease": [ { "entId": "MONDO:0021060", "entIri": "http://purl.obolibrary.org/obo/MONDO_0021060", "entType": "Disease", "ldhId": "135642042", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642042", "rev": "_iysfmna---" }, { "entId": "MONDO:0021060", "entIri": "http://purl.obolibrary.org/obo/MONDO_0021060", "entType": "Disease", "ldhId": "135642020", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642020", "rev": "_inf5Bjm--c" }, { "entId": "MONDO:0021060", "entIri": "http://purl.obolibrary.org/obo/MONDO_0021060", "entType": "Disease", "ldhId": "135642022", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642022", "rev": "_kZ7y8AC---" } ], "Gene": [ { "entId": "RAF1", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9829", "entType": "Gene", "ldhId": "135641813", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/135641813", "rev": "_inf5A8S--G" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "643243117", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/643243117", "rev": "_i2nM9D6---" } ] }, "ldFor": { "Organization": [ { "entId": "50021", "entIri": "http://clinicalgenome.org/affiliation/50021", "entType": "Organization", "ldhId": "135637642", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/135637642", "rev": "_inf5B_G--D" } ], "SequenceVariantInterpretation": [ { "entId": "GN004", "entType": "SequenceVariantInterpretation", "ldhId": "135637576", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637576", "rev": "_inf5BXW--Z" }, { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" } ] }, "ldhId": "643243110", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243110", "modified": "2024-12-03T02:17:32.101Z", "modifier": "RFWebb", "rev": "_i2nM8u----" }, { "entContent": { "approvedOn": "2024-12-03T02:19:15.101Z", "description": "These are the ACMG/AMP variant classification specifications developed by the RASopathy VCEP for SOS1.", "hideFlag": false, "legacyFullySuperseded": true, "namespace": "GN041", "notes": "These criteria should only be used to classify germline variants potentially associated with a RASopathy phenotype. Please note that these adapted criteria are not currently designed to classify variants relative to non-RASopathy phenotypes (e.g. loss of function variants in PTPN11 related to metachondromatosis); however, information about these other genotype:phenotype correlations are noted within the supplemental material. These criteria are also not designed to classify somatic variation in these genes. It is well-known that information about known somatic mutations can be utilized as supporting evidence for classifying variants relative to the RASopathy spectrum disorders given the disease mechanisms are directly correlated. Future initiatives in conjunction with the ClinGen somatic working group will aim to define this relationship in subsequent versions of this documentation. Currently, specific phenotype:genotype correlations regarding somatic variants should not be used as evidence to support germline pathogenicity.", "references": [ { "source": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/29493581" } ], "releaseNotes": "Submitting Pilot Rules. All pilot variants are attached in the LZTR1 submission. “Observed in ≥5 probands” removed from PM5 at Moderate strength.", "releasedUnderRevision": true, "shortTitle": "ACMG variant classification (RASopathy)", "specificationSource": "", "states": [ { "current": false, "event": { "name": "cspec-created", "prevState": "START", "timeStamp": "2022-08-18T19:12:53.367Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "name": "pilot-rules-submitted", "prevState": "Pilot Rules In Prep", "timeStamp": "2024-12-02T21:08:22.314Z" }, "name": "Pilot Rules Submitted" }, { "current": false, "event": { "name": "pilot-rules-withdrawn", "prevState": "Pilot Rules Submitted", "timeStamp": "2023-06-07T18:34:23.894Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "name": "pilot-rules-moved", "prevState": "Pilot Rules Submitted", "timeStamp": "2023-07-19T17:47:58.212Z" }, "name": "Classification Rules In Prep" }, { "current": false, "event": { "name": "classified-rules-moved", "prevState": "Classification Rules In Prep", "timeStamp": "2023-07-19T17:47:58.212Z" }, "name": "Classification Rules Submitted" }, { "current": false, "event": { "name": "classified-rules-approved", "prevState": "Classification Rules Submitted", "timeStamp": "2023-09-06T21:11:50.393Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "name": "pilot-rules-reviewed", "prevState": "Pilot Rules Submitted", "timeStamp": "2024-06-11T16:07:33.017Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "name": "pilot-rules-approved", "prevState": "Pilot Rules Submitted", "timeStamp": "2024-12-02T23:41:41.968Z" }, "name": "Approved For Release" }, { "current": false, "event": { "name": "cspec-released", "prevState": "Approved For Release", "timeStamp": "2024-12-03T02:19:15.101Z" }, "name": "Released" }, { "current": true, "event": { "name": "cspec-reopened", "prevState": "Released", "timeStamp": "2026-02-20T17:53:22.208Z" }, "name": "Pilot Rules In Prep" } ], "tagNameSpaces": [ "041" ], "title": "ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SOS1 Version 2.3.0", "version": "2.3.0", "versioned": true }, "entId": "GN041", "entType": "SequenceVariantInterpretation", "ld": { "CriteriaCode": [ { "created": "2024-08-03T01:27:44.935Z", "entType": "CriteriaCode", "ldhId": "1828334149", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828334149", "rev": "_i2nOj3q---" }, { "created": "2024-08-03T01:27:44.935Z", "entType": "CriteriaCode", "ldhId": "1828334138", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828334138", "rev": "_i2nOj8S---" }, { "created": "2024-08-03T01:27:44.935Z", "entType": "CriteriaCode", "ldhId": "1828334137", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828334137", "rev": "_i2nOj9G---" }, { "created": "2024-08-03T01:27:44.935Z", "entType": "CriteriaCode", "ldhId": "1828334134", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828334134", "rev": "_i2nOj2a---" }, { "created": "2024-08-03T01:27:44.935Z", "entType": "CriteriaCode", "ldhId": "1828334132", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828334132", "rev": "_i2nOjxS---" }, { "created": "2024-08-03T01:27:44.935Z", "entType": "CriteriaCode", "ldhId": "1828334124", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828334124", "rev": "_i2nOkES---" }, { "created": "2024-08-03T01:27:44.935Z", "entType": "CriteriaCode", "ldhId": "1828334147", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828334147", "rev": "_i2nOj1i---" }, { "created": "2024-08-03T01:27:44.935Z", "entType": "CriteriaCode", "ldhId": "1828334136", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828334136", "rev": "_i2nOkA2---" }, { "created": "2024-08-03T01:27:44.935Z", "entType": "CriteriaCode", "ldhId": "1828334135", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828334135", "rev": "_i2nOjwO---" }, { "created": "2024-08-03T01:27:44.935Z", "entType": "CriteriaCode", "ldhId": "1828334133", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828334133", "rev": "_i2nOkBa--F" }, { "created": "2024-08-03T01:27:44.935Z", "entType": "CriteriaCode", "ldhId": "1828334127", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828334127", "rev": "_i2nOkCK--L" }, { "created": "2024-08-03T01:27:44.935Z", "entType": "CriteriaCode", "ldhId": "1828334123", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828334123", "rev": "_i2nOj1----" }, { "created": "2024-08-03T01:27:44.935Z", "entType": "CriteriaCode", "ldhId": "1828334146", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828334146", "rev": "_i2nOjtC---" }, { "created": "2024-08-03T01:27:44.935Z", "entType": "CriteriaCode", "ldhId": "1828334145", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828334145", "rev": "_i2nOjt2---" }, { "created": "2024-08-03T01:27:44.935Z", "entType": "CriteriaCode", "ldhId": "1828334144", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828334144", "rev": "_i2nOj4u---" }, { "created": "2024-08-03T01:27:44.935Z", "entType": "CriteriaCode", "ldhId": "1828334140", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828334140", "rev": "_i2nOk_q---" }, { "created": "2024-08-03T01:27:44.935Z", "entType": "CriteriaCode", "ldhId": "1828334130", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828334130", "rev": "_i2nOk-G---" }, { "created": "2024-08-03T01:27:44.935Z", "entType": "CriteriaCode", "ldhId": "1828334128", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828334128", "rev": "_i2nOjz2---" }, { "created": "2024-08-03T01:27:44.935Z", "entType": "CriteriaCode", "ldhId": "1828334122", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828334122", "rev": "_i2nOkEy---" }, { "created": "2024-08-03T01:27:44.935Z", "entType": "CriteriaCode", "ldhId": "1828334143", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828334143", "rev": "_i2nOj5O---" }, { "created": "2024-08-03T01:27:44.935Z", "entType": "CriteriaCode", "ldhId": "1828334139", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828334139", "rev": "_i2nOjvC---" }, { "created": "2024-08-03T01:27:44.935Z", "entType": "CriteriaCode", "ldhId": "1828334131", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828334131", "rev": "_i2nOjyC---" }, { "created": "2024-08-03T01:27:44.935Z", "entType": "CriteriaCode", "ldhId": "1828334126", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828334126", "rev": "_i2nOkDW---" }, { "created": "2024-08-03T01:27:44.935Z", "entType": "CriteriaCode", "ldhId": "1828334148", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828334148", "rev": "_i2nOjra---" }, { "created": "2024-08-03T01:27:44.935Z", "entType": "CriteriaCode", "ldhId": "1828334142", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828334142", "rev": "_i2nOj6S---" }, { "created": "2024-08-03T01:27:44.935Z", "entType": "CriteriaCode", "ldhId": "1828334141", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828334141", "rev": "_i2nOj7e---" }, { "created": "2024-08-03T01:27:44.935Z", "entType": "CriteriaCode", "ldhId": "1828334129", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828334129", "rev": "_i2nOjzC---" }, { "created": "2024-08-03T01:27:44.935Z", "entType": "CriteriaCode", "ldhId": "1828334125", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828334125", "rev": "_i2nOk_K---" } ], "Disease": [ { "entId": "MONDO:0021060", "entIri": "http://purl.obolibrary.org/obo/MONDO_0021060", "entType": "Disease", "ldhId": "135642020", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642020", "rev": "_inf5Bjm--c" }, { "entId": "MONDO:0021060", "entIri": "http://purl.obolibrary.org/obo/MONDO_0021060", "entType": "Disease", "ldhId": "135642022", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642022", "rev": "_kZ7y8AC---" } ], "Gene": [ { "entId": "SOS1", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11187", "entType": "Gene", "ldhId": "135641814", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/135641814", "rev": "_inf5A8---G" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "643243118", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/643243118", "rev": "_i2nOjTS---" } ] }, "ldFor": { "Organization": [ { "entId": "50021", "entIri": "http://clinicalgenome.org/affiliation/50021", "entType": "Organization", "ldhId": "135637642", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/135637642", "rev": "_inf5B_G--D" } ], "SequenceVariantInterpretation": [ { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" }, { "entId": "GN004", "entType": "SequenceVariantInterpretation", "ldhId": "135637576", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637576", "rev": "_inf5BXW--Z" } ] }, "ldhId": "643243111", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243111", "modified": "2026-02-20T17:53:22.427Z", "modifier": "hdziadzio", "rev": "_lFutT-m---" }, { "entContent": { "approvedOn": "2024-12-03T02:39:48.842Z", "description": "These are the ACMG/AMP variant classification specifications developed by the RASopathy VCEP for SOS2.", "hideFlag": false, "legacyFullySuperseded": true, "namespace": "GN042", "notes": "These criteria should only be used to classify germline variants potentially associated with a RASopathy phenotype. Please note that these adapted criteria are not currently designed to classify variants relative to non-RASopathy phenotypes (e.g. loss of function variants in PTPN11 related to metachondromatosis); however, information about these other genotype:phenotype correlations are noted within the supplemental material. These criteria are also not designed to classify somatic variation in these genes. It is well-known that information about known somatic mutations can be utilized as supporting evidence for classifying variants relative to the RASopathy spectrum disorders given the disease mechanisms are directly correlated. Future initiatives in conjunction with the ClinGen somatic working group will aim to define this relationship in subsequent versions of this documentation. Currently, specific phenotype:genotype correlations regarding somatic variants should not be used as evidence to support germline pathogenicity.", "references": [ { "source": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/29493581" } ], "releaseNotes": "Submitting Pilot Rules. All pilot variants are attached in the LZTR1 submission. “Observed in ≥5 probands” removed from PM5 at Moderate strength.", "releasedUnderRevision": true, "shortTitle": "ACMG variant classification (RASopathy)", "specificationSource": "", "states": [ { "current": false, "event": { "name": "cspec-created", "prevState": "START", "timeStamp": "2022-08-18T19:12:57.208Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "name": "pilot-rules-submitted", "prevState": "Pilot Rules In Prep", "timeStamp": "2024-12-02T21:10:39.622Z" }, "name": "Pilot Rules Submitted" }, { "current": false, "event": { "name": "pilot-rules-withdrawn", "prevState": "Pilot Rules Submitted", "timeStamp": "2023-06-07T18:37:09.802Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "name": "pilot-rules-moved", "prevState": "Pilot Rules Submitted", "timeStamp": "2023-07-19T18:13:12.917Z" }, "name": "Classification Rules In Prep" }, { "current": false, "event": { "name": "classified-rules-moved", "prevState": "Classification Rules In Prep", "timeStamp": "2023-07-19T18:13:12.917Z" }, "name": "Classification Rules Submitted" }, { "current": false, "event": { "name": "classified-rules-approved", "prevState": "Classification Rules Submitted", "timeStamp": "2023-09-06T21:12:00.498Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "name": "pilot-rules-reviewed", "prevState": "Pilot Rules Submitted", "timeStamp": "2024-06-11T16:09:44.219Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "name": "pilot-rules-approved", "prevState": "Pilot Rules Submitted", "timeStamp": "2024-12-02T23:42:17.356Z" }, "name": "Approved For Release" }, { "current": false, "event": { "name": "cspec-released", "prevState": "Approved For Release", "timeStamp": "2024-12-03T02:39:48.842Z" }, "name": "Released" }, { "current": true, "event": { "name": "cspec-reopened", "prevState": "Released", "timeStamp": "2026-02-20T17:55:01.943Z" }, "name": "Pilot Rules In Prep" } ], "tagNameSpaces": [ "042" ], "title": "ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SOS2 Version 2.3.0", "version": "2.3.0", "versioned": true }, "entId": "GN042", "entType": "SequenceVariantInterpretation", "ld": { "CriteriaCode": [ { "created": "2024-08-03T01:20:22.072Z", "entType": "CriteriaCode", "ldhId": "1828330854", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828330854", "rev": "_i2nhY4S---" }, { "created": "2024-08-03T01:20:22.072Z", "entType": "CriteriaCode", "ldhId": "1828330849", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828330849", "rev": "_i2nhYzy---" }, { "created": "2024-08-03T01:20:22.072Z", "entType": "CriteriaCode", "ldhId": "1828330842", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828330842", "rev": "_i2nhYka---" }, { "created": "2024-08-03T01:20:22.072Z", "entType": "CriteriaCode", "ldhId": "1828330836", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828330836", "rev": "_i2nhY02---" }, { "created": "2024-08-03T01:20:22.072Z", "entType": "CriteriaCode", "ldhId": "1828330857", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828330857", "rev": "_i2nhY3q---" }, { "created": "2024-08-03T01:20:22.072Z", "entType": "CriteriaCode", "ldhId": "1828330856", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828330856", "rev": "_i2nhYxu---" }, { "created": "2024-08-03T01:20:22.072Z", "entType": "CriteriaCode", "ldhId": "1828330847", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828330847", "rev": "_i2nhYry---" }, { "created": "2024-08-03T01:20:22.072Z", "entType": "CriteriaCode", "ldhId": "1828330843", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828330843", "rev": "_i2nhY8C---" }, { "created": "2024-08-03T01:20:22.072Z", "entType": "CriteriaCode", "ldhId": "1828330835", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828330835", "rev": "_i2nhZ-K---" }, { "created": "2024-08-03T01:20:22.072Z", "entType": "CriteriaCode", "ldhId": "1828330859", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828330859", "rev": "_i2nhY2W--C" }, { "created": "2024-08-03T01:20:22.072Z", "entType": "CriteriaCode", "ldhId": "1828330858", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828330858", "rev": "_i2nhYwi---" }, { "created": "2024-08-03T01:20:22.072Z", "entType": "CriteriaCode", "ldhId": "1828330846", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828330846", "rev": "_i2nhYs2---" }, { "created": "2024-08-03T01:20:22.072Z", "entType": "CriteriaCode", "ldhId": "1828330845", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828330845", "rev": "_i2nhYuC---" }, { "created": "2024-08-03T01:20:22.072Z", "entType": "CriteriaCode", "ldhId": "1828330844", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828330844", "rev": "_i2nhYmm---" }, { "created": "2024-08-03T01:20:22.072Z", "entType": "CriteriaCode", "ldhId": "1828330841", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828330841", "rev": "_i2nhYnu---" }, { "created": "2024-08-03T01:20:22.072Z", "entType": "CriteriaCode", "ldhId": "1828330840", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828330840", "rev": "_i2nhYp----" }, { "created": "2024-08-03T01:20:22.072Z", "entType": "CriteriaCode", "ldhId": "1828330838", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828330838", "rev": "_i2nhYum---" }, { "created": "2024-08-03T01:20:22.072Z", "entType": "CriteriaCode", "ldhId": "1828330834", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828330834", "rev": "_i2nhYva---" }, { "created": "2024-08-03T01:20:22.072Z", "entType": "CriteriaCode", "ldhId": "1828330833", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828330833", "rev": "_i2nhZ-2---" }, { "created": "2024-08-03T01:20:22.072Z", "entType": "CriteriaCode", "ldhId": "1828330852", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828330852", "rev": "_i2nhY6O---" }, { "created": "2024-08-03T01:20:22.072Z", "entType": "CriteriaCode", "ldhId": "1828330851", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828330851", "rev": "_i2nhYqC---" }, { "created": "2024-08-03T01:20:22.072Z", "entType": "CriteriaCode", "ldhId": "1828330855", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828330855", "rev": "_i2nhYyy---" }, { "created": "2024-08-03T01:20:22.072Z", "entType": "CriteriaCode", "ldhId": "1828330853", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828330853", "rev": "_i2nhY5i---" }, { "created": "2024-08-03T01:20:22.072Z", "entType": "CriteriaCode", "ldhId": "1828330850", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828330850", "rev": "_i2nhY66---" }, { "created": "2024-08-03T01:20:22.072Z", "entType": "CriteriaCode", "ldhId": "1828330848", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828330848", "rev": "_i2nhYrC---" }, { "created": "2024-08-03T01:20:22.072Z", "entType": "CriteriaCode", "ldhId": "1828330839", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828330839", "rev": "_i2nhY9K---" }, { "created": "2024-08-03T01:20:22.072Z", "entType": "CriteriaCode", "ldhId": "1828330837", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828330837", "rev": "_i2nhYlO---" }, { "created": "2024-08-03T01:20:22.072Z", "entType": "CriteriaCode", "ldhId": "1828330832", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828330832", "rev": "_i2nhY1m---" } ], "Disease": [ { "entId": "MONDO:0021060", "entIri": "http://purl.obolibrary.org/obo/MONDO_0021060", "entType": "Disease", "ldhId": "135642042", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642042", "rev": "_iysfmna---" }, { "entId": "MONDO:0021060", "entIri": "http://purl.obolibrary.org/obo/MONDO_0021060", "entType": "Disease", "ldhId": "135642020", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642020", "rev": "_inf5Bjm--c" }, { "entId": "MONDO:0021060", "entIri": "http://purl.obolibrary.org/obo/MONDO_0021060", "entType": "Disease", "ldhId": "135642022", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642022", "rev": "_kZ7y8AC---" } ], "Gene": [ { "entId": "SOS2", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11188", "entType": "Gene", "ldhId": "135641815", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/135641815", "rev": "_inf5A8---F" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "643243119", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/643243119", "rev": "_i2nhYKm---" } ] }, "ldFor": { "Organization": [ { "entId": "50021", "entIri": "http://clinicalgenome.org/affiliation/50021", "entType": "Organization", "ldhId": "135637642", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/135637642", "rev": "_inf5B_G--D" } ], "SequenceVariantInterpretation": [ { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" }, { "entId": "GN004", "entType": "SequenceVariantInterpretation", "ldhId": "135637576", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637576", "rev": "_inf5BXW--Z" } ] }, "ldhId": "643243112", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243112", "modified": "2026-02-20T17:55:02.119Z", "modifier": "hdziadzio", "rev": "_lFuu0VG---" }, { "entContent": { "approvedOn": "2024-12-03T02:44:48.634Z", "description": "These are the ACMG/AMP variant classification specifications developed by the RASopathy VCEP for PTPN11.", "hideFlag": false, "legacyFullySuperseded": true, "namespace": "GN043", "notes": "These criteria should only be used to classify germline variants potentially associated with a RASopathy phenotype. Please note that these adapted criteria are not currently designed to classify variants relative to non-RASopathy phenotypes (e.g. loss of function variants in PTPN11 related to metachondromatosis); however, information about these other genotype:phenotype correlations are noted within the supplemental material. These criteria are also not designed to classify somatic variation in these genes. It is well-known that information about known somatic mutations can be utilized as supporting evidence for classifying variants relative to the RASopathy spectrum disorders given the disease mechanisms are directly correlated. Future initiatives in conjunction with the ClinGen somatic working group will aim to define this relationship in subsequent versions of this documentation. Currently, specific phenotype:genotype correlations regarding somatic variants should not be used as evidence to support germline pathogenicity.", "references": [ { "source": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/29493581" } ], "releaseNotes": "Submitting Pilot Rules. All pilot variants are attached in the LZTR1 submission. “Observed in ≥5 probands” removed from PM5 at Moderate strength.", "releasedUnderRevision": true, "shortTitle": "ACMG variant classification (RASopathy)", "specificationSource": "", "states": [ { "current": false, "event": { "modifiedBy": "cspecAdministrator", "name": "cspec-created", "prevState": "START", "timeStamp": "2022-08-18T19:13:01.042Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "RFWebb", "name": "pilot-rules-submitted", "prevState": "Pilot Rules In Prep", "timeStamp": "2024-12-02T21:13:13.176Z" }, "name": "Pilot Rules Submitted" }, { "current": false, "event": { "modifiedBy": "RFWebb", "name": "pilot-rules-withdrawn", "prevState": "Pilot Rules Submitted", "timeStamp": "2023-06-07T18:39:57.331Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "cspecAdministrator", "name": "pilot-rules-moved", "prevState": "Pilot Rules Submitted", "timeStamp": "2023-07-19T17:48:18.623Z" }, "name": "Classification Rules In Prep" }, { "current": false, "event": { "modifiedBy": "cspecAdministrator", "name": "classified-rules-moved", "prevState": "Classification Rules In Prep", "timeStamp": "2023-07-19T17:48:18.623Z" }, "name": "Classification Rules Submitted" }, { "current": false, "event": { "modifiedBy": "sharriso", "name": "classified-rules-approved", "prevState": "Classification Rules Submitted", "timeStamp": "2023-09-06T21:12:09.143Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "sharriso", "name": "pilot-rules-reviewed", "prevState": "Pilot Rules Submitted", "timeStamp": "2024-06-11T16:11:00.411Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "abyrne", "name": "pilot-rules-approved", "prevState": "Pilot Rules Submitted", "timeStamp": "2024-12-02T23:42:59.418Z" }, "name": "Approved For Release" }, { "current": true, "event": { "modifiedBy": "RFWebb", "name": "cspec-released", "prevState": "Approved For Release", "timeStamp": "2024-12-03T02:44:48.634Z" }, "name": "Released" }, { "current": false, "event": { "modifiedBy": "RFWebb", "name": "cspec-reopened", "prevState": "Released", "timeStamp": "2024-12-02T21:12:08.270Z" }, "name": "Pilot Rules In Prep" } ], "tagNameSpaces": [ "043" ], "title": "ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for PTPN11 Version 2.3.0", "version": "2.3.0", "versioned": true }, "entId": "GN043", "entType": "SequenceVariantInterpretation", "ld": { "CriteriaCode": [ { "created": "2024-08-03T01:19:36.915Z", "entType": "CriteriaCode", "ldhId": "1828330079", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828330079", "rev": "_i2nl9cG---" }, { "created": "2024-08-03T01:19:36.915Z", "entType": "CriteriaCode", "ldhId": "1828330075", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828330075", "rev": "_i2nl9W----" }, { "created": "2024-08-03T01:19:36.915Z", "entType": "CriteriaCode", "ldhId": "1828330066", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828330066", "rev": "_i2nl9Zi---" }, { "created": "2024-08-03T01:19:36.915Z", "entType": "CriteriaCode", "ldhId": "1828330063", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828330063", "rev": "_i2nl9IW---" }, { "created": "2024-08-03T01:19:36.915Z", "entType": "CriteriaCode", "ldhId": "1828330061", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828330061", "rev": "_i2nl9N2---" }, { "created": "2024-08-03T01:19:36.915Z", "entType": "CriteriaCode", "ldhId": "1828330060", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828330060", "rev": "_i2nl9da---" }, { "created": "2024-08-03T01:19:36.915Z", "entType": "CriteriaCode", "ldhId": "1828330057", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828330057", "rev": "_i2nl9JC---" }, { "created": "2024-08-03T01:19:36.915Z", "entType": "CriteriaCode", "ldhId": "1828330080", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828330080", "rev": "_i2nl9Qe---" }, { "created": "2024-08-03T01:19:36.915Z", "entType": "CriteriaCode", "ldhId": "1828330077", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828330077", "rev": "_i2nl9K6---" }, { "created": "2024-08-03T01:19:36.915Z", "entType": "CriteriaCode", "ldhId": "1828330074", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828330074", "rev": "_i2nl9RS---" }, { "created": "2024-08-03T01:19:36.915Z", "entType": "CriteriaCode", "ldhId": "1828330073", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828330073", "rev": "_i2nl9R6---" }, { "created": "2024-08-03T01:19:36.915Z", "entType": "CriteriaCode", "ldhId": "1828330070", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828330070", "rev": "_i2nl9S6---" }, { "created": "2024-08-03T01:19:36.915Z", "entType": "CriteriaCode", "ldhId": "1828330067", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828330067", "rev": "_i2nl9Yq---" }, { "created": "2024-08-03T01:19:36.915Z", "entType": "CriteriaCode", "ldhId": "1828330065", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828330065", "rev": "_i2nl9Ga---" }, { "created": "2024-08-03T01:19:36.915Z", "entType": "CriteriaCode", "ldhId": "1828330064", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828330064", "rev": "_i2nl9HK---" }, { "created": "2024-08-03T01:19:36.915Z", "entType": "CriteriaCode", "ldhId": "1828330055", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828330055", "rev": "_i2nl9ee---" }, { "created": "2024-08-03T01:19:36.915Z", "entType": "CriteriaCode", "ldhId": "1828330081", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828330081", "rev": "_i2nl9U6---" }, { "created": "2024-08-03T01:19:36.915Z", "entType": "CriteriaCode", "ldhId": "1828330078", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828330078", "rev": "_i2nl9Jy---" }, { "created": "2024-08-03T01:19:36.915Z", "entType": "CriteriaCode", "ldhId": "1828330071", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828330071", "rev": "_i2nl9Fe---" }, { "created": "2024-08-03T01:19:36.915Z", "entType": "CriteriaCode", "ldhId": "1828330069", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828330069", "rev": "_i2nl9Mq---" }, { "created": "2024-08-03T01:19:36.915Z", "entType": "CriteriaCode", "ldhId": "1828330062", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828330062", "rev": "_i2nl9T2---" }, { "created": "2024-08-03T01:19:36.915Z", "entType": "CriteriaCode", "ldhId": "1828330059", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828330059", "rev": "_i2nl9Om---" }, { "created": "2024-08-03T01:19:36.915Z", "entType": "CriteriaCode", "ldhId": "1828330082", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828330082", "rev": "_i2nl9be---" }, { "created": "2024-08-03T01:19:36.915Z", "entType": "CriteriaCode", "ldhId": "1828330072", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828330072", "rev": "_i2nl9W6---" }, { "created": "2024-08-03T01:19:36.915Z", "entType": "CriteriaCode", "ldhId": "1828330076", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828330076", "rev": "_i2nl9L2---" }, { "created": "2024-08-03T01:19:36.915Z", "entType": "CriteriaCode", "ldhId": "1828330068", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828330068", "rev": "_i2nl9X2---" }, { "created": "2024-08-03T01:19:36.915Z", "entType": "CriteriaCode", "ldhId": "1828330058", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828330058", "rev": "_i2nl9Pm---" }, { "created": "2024-08-03T01:19:36.915Z", "entType": "CriteriaCode", "ldhId": "1828330056", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828330056", "rev": "_i2nl9aq---" } ], "Disease": [ { "entId": "MONDO:0021060", "entIri": "http://purl.obolibrary.org/obo/MONDO_0021060", "entType": "Disease", "ldhId": "135642020", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642020", "rev": "_inf5Bjm--c" }, { "entId": "MONDO:0021060", "entIri": "http://purl.obolibrary.org/obo/MONDO_0021060", "entType": "Disease", "ldhId": "135642022", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642022", "rev": "_kZ7y8AC---" } ], "Gene": [ { "entId": "PTPN11", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9644", "entType": "Gene", "ldhId": "135641816", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/135641816", "rev": "_inf5A8---F" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "643243120", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/643243120", "rev": "_i2nl8v----" } ] }, "ldFor": { "Organization": [ { "entId": "50021", "entIri": "http://clinicalgenome.org/affiliation/50021", "entType": "Organization", "ldhId": "135637642", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/135637642", "rev": "_inf5B_G--D" } ], "SequenceVariantInterpretation": [ { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" }, { "entId": "GN004", "entType": "SequenceVariantInterpretation", "ldhId": "135637576", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637576", "rev": "_inf5BXW--Z" } ] }, "ldhId": "643243113", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243113", "modified": "2024-12-03T02:44:50.242Z", "modifier": "RFWebb", "rev": "_i2nl8by--A" }, { "entContent": { "approvedOn": "2024-12-03T02:47:47.231Z", "description": "These are the ACMG/AMP variant classification specifications developed by the RASopathy VCEP for KRAS.", "hideFlag": false, "legacyFullySuperseded": true, "namespace": "GN044", "notes": "These criteria should only be used to classify germline variants potentially associated with a RASopathy phenotype. Please note that these adapted criteria are not currently designed to classify variants relative to non-RASopathy phenotypes (e.g. loss of function variants in PTPN11 related to metachondromatosis); however, information about these other genotype:phenotype correlations are noted within the supplemental material. These criteria are also not designed to classify somatic variation in these genes. It is well-known that information about known somatic mutations can be utilized as supporting evidence for classifying variants relative to the RASopathy spectrum disorders given the disease mechanisms are directly correlated. Future initiatives in conjunction with the ClinGen somatic working group will aim to define this relationship in subsequent versions of this documentation. Currently, specific phenotype:genotype correlations regarding somatic variants should not be used as evidence to support germline pathogenicity.", "references": [ { "source": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/29493581" } ], "releaseNotes": "Submitting Pilot Rules. All pilot variants are attached in the LZTR1 submission. “Observed in ≥5 probands” removed from PM5 at Moderate strength.", "releasedUnderRevision": true, "shortTitle": "ACMG variant classification (RASopathy)", "specificationSource": "", "states": [ { "current": false, "event": { "modifiedBy": "cspecAdministrator", "name": "cspec-created", "prevState": "START", "timeStamp": "2022-08-18T19:13:04.995Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "RFWebb", "name": "pilot-rules-submitted", "prevState": "Pilot Rules In Prep", "timeStamp": "2024-12-02T21:14:52.630Z" }, "name": "Pilot Rules Submitted" }, { "current": false, "event": { "modifiedBy": "RFWebb", "name": "pilot-rules-withdrawn", "prevState": "Pilot Rules Submitted", "timeStamp": "2023-06-07T18:45:31.721Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "cspecAdministrator", "name": "pilot-rules-moved", "prevState": "Pilot Rules Submitted", "timeStamp": "2023-07-19T17:48:38.616Z" }, "name": "Classification Rules In Prep" }, { "current": false, "event": { "modifiedBy": "cspecAdministrator", "name": "classified-rules-moved", "prevState": "Classification Rules In Prep", "timeStamp": "2023-07-19T17:48:38.616Z" }, "name": "Classification Rules Submitted" }, { "current": false, "event": { "modifiedBy": "sharriso", "name": "classified-rules-approved", "prevState": "Classification Rules Submitted", "timeStamp": "2023-09-06T21:12:17.935Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "sharriso", "name": "pilot-rules-reviewed", "prevState": "Pilot Rules Submitted", "timeStamp": "2024-06-11T16:12:34.266Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "abyrne", "name": "pilot-rules-approved", "prevState": "Pilot Rules Submitted", "timeStamp": "2024-12-02T23:44:02.608Z" }, "name": "Approved For Release" }, { "current": true, "event": { "modifiedBy": "RFWebb", "name": "cspec-released", "prevState": "Approved For Release", "timeStamp": "2024-12-03T02:47:47.231Z" }, "name": "Released" }, { "current": false, "event": { "modifiedBy": "RFWebb", "name": "cspec-reopened", "prevState": "Released", "timeStamp": "2024-12-02T21:14:17.855Z" }, "name": "Pilot Rules In Prep" } ], "tagNameSpaces": [ "044" ], "title": "ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for KRAS Version 2.3.0", "version": "2.3.0", "versioned": true }, "entId": "GN044", "entType": "SequenceVariantInterpretation", "ld": { "CriteriaCode": [ { "created": "2024-08-03T01:18:35.562Z", "entType": "CriteriaCode", "ldhId": "1828329276", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828329276", "rev": "_i2nor7y---" }, { "created": "2024-08-03T01:18:35.562Z", "entType": "CriteriaCode", "ldhId": "1828329275", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828329275", "rev": "_i2nor8e---" }, { "created": "2024-08-03T01:18:35.562Z", "entType": "CriteriaCode", "ldhId": "1828329274", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828329274", "rev": "_i2nory6---" }, { "created": "2024-08-03T01:18:35.562Z", "entType": "CriteriaCode", "ldhId": "1828329266", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828329266", "rev": "_i2nos_i---" }, { "created": "2024-08-03T01:18:35.562Z", "entType": "CriteriaCode", "ldhId": "1828329255", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828329255", "rev": "_i2nosAa---" }, { "created": "2024-08-03T01:18:35.562Z", "entType": "CriteriaCode", "ldhId": "1828329278", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828329278", "rev": "_i2norxq---" }, { "created": "2024-08-03T01:18:35.562Z", "entType": "CriteriaCode", "ldhId": "1828329277", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828329277", "rev": "_i2normm---" }, { "created": "2024-08-03T01:18:35.562Z", "entType": "CriteriaCode", "ldhId": "1828329270", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828329270", "rev": "_i2nor3a---" }, { "created": "2024-08-03T01:18:35.562Z", "entType": "CriteriaCode", "ldhId": "1828329268", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828329268", "rev": "_i2norni---" }, { "created": "2024-08-03T01:18:35.562Z", "entType": "CriteriaCode", "ldhId": "1828329267", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828329267", "rev": "_i2norzi---" }, { "created": "2024-08-03T01:18:35.562Z", "entType": "CriteriaCode", "ldhId": "1828329263", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828329263", "rev": "_i2nor0e---" }, { "created": "2024-08-03T01:18:35.562Z", "entType": "CriteriaCode", "ldhId": "1828329259", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828329259", "rev": "_i2nor1K---" }, { "created": "2024-08-03T01:18:35.562Z", "entType": "CriteriaCode", "ldhId": "1828329251", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828329251", "rev": "_i2norwq---" }, { "created": "2024-08-03T01:18:35.562Z", "entType": "CriteriaCode", "ldhId": "1828329273", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828329273", "rev": "_i2norvC---" }, { "created": "2024-08-03T01:18:35.562Z", "entType": "CriteriaCode", "ldhId": "1828329272", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828329272", "rev": "_i2nor9m---" }, { "created": "2024-08-03T01:18:35.562Z", "entType": "CriteriaCode", "ldhId": "1828329265", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828329265", "rev": "_i2nor4W---" }, { "created": "2024-08-03T01:18:35.562Z", "entType": "CriteriaCode", "ldhId": "1828329264", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828329264", "rev": "_i2noroq---" }, { "created": "2024-08-03T01:18:35.562Z", "entType": "CriteriaCode", "ldhId": "1828329258", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828329258", "rev": "_i2norsG---" }, { "created": "2024-08-03T01:18:35.562Z", "entType": "CriteriaCode", "ldhId": "1828329256", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828329256", "rev": "_i2nors2---" }, { "created": "2024-08-03T01:18:35.562Z", "entType": "CriteriaCode", "ldhId": "1828329254", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828329254", "rev": "_i2nortm---" }, { "created": "2024-08-03T01:18:35.562Z", "entType": "CriteriaCode", "ldhId": "1828329253", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828329253", "rev": "_i2nor6q---" }, { "created": "2024-08-03T01:18:35.562Z", "entType": "CriteriaCode", "ldhId": "1828329271", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828329271", "rev": "_i2nor2O---" }, { "created": "2024-08-03T01:18:35.562Z", "entType": "CriteriaCode", "ldhId": "1828329261", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828329261", "rev": "_i2norrG---" }, { "created": "2024-08-03T01:18:35.562Z", "entType": "CriteriaCode", "ldhId": "1828329260", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828329260", "rev": "_i2nor5i---" }, { "created": "2024-08-03T01:18:35.562Z", "entType": "CriteriaCode", "ldhId": "1828329257", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828329257", "rev": "_i2norvy---" }, { "created": "2024-08-03T01:18:35.562Z", "entType": "CriteriaCode", "ldhId": "1828329269", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828329269", "rev": "_i2nos-e---" }, { "created": "2024-08-03T01:18:35.562Z", "entType": "CriteriaCode", "ldhId": "1828329262", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828329262", "rev": "_i2norqO---" }, { "created": "2024-08-03T01:18:35.562Z", "entType": "CriteriaCode", "ldhId": "1828329252", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828329252", "rev": "_i2nosBi---" } ], "Disease": [ { "entId": "MONDO:0021060", "entIri": "http://purl.obolibrary.org/obo/MONDO_0021060", "entType": "Disease", "ldhId": "135642022", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642022", "rev": "_kZ7y8AC---" }, { "entId": "MONDO:0021060", "entIri": "http://purl.obolibrary.org/obo/MONDO_0021060", "entType": "Disease", "ldhId": "135642020", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642020", "rev": "_inf5Bjm--c" } ], "Gene": [ { "entId": "KRAS", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6407", "entType": "Gene", "ldhId": "135641817", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/135641817", "rev": "_inf5A8---A" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "643243121", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/643243121", "rev": "_i2norRu---" } ] }, "ldFor": { "Organization": [ { "entId": "50021", "entIri": "http://clinicalgenome.org/affiliation/50021", "entType": "Organization", "ldhId": "135637642", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/135637642", "rev": "_inf5B_G--D" } ], "SequenceVariantInterpretation": [ { "entId": "GN004", "entType": "SequenceVariantInterpretation", "ldhId": "135637576", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637576", "rev": "_inf5BXW--Z" }, { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" } ] }, "ldhId": "643243114", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243114", "modified": "2024-12-03T02:47:48.933Z", "modifier": "RFWebb", "rev": "_i2noq9m---" }, { "entContent": { "approvedOn": "2024-12-03T02:50:14.122Z", "description": "These are the ACMG/AMP variant classification specifications developed by the RASopathy VCEP for MAP2K1.", "hideFlag": false, "legacyFullySuperseded": true, "namespace": "GN045", "notes": "These criteria should only be used to classify germline variants potentially associated with a RASopathy phenotype. Please note that these adapted criteria are not currently designed to classify variants relative to non-RASopathy phenotypes (e.g. loss of function variants in PTPN11 related to metachondromatosis); however, information about these other genotype:phenotype correlations are noted within the supplemental material. These criteria are also not designed to classify somatic variation in these genes. It is well-known that information about known somatic mutations can be utilized as supporting evidence for classifying variants relative to the RASopathy spectrum disorders given the disease mechanisms are directly correlated. Future initiatives in conjunction with the ClinGen somatic working group will aim to define this relationship in subsequent versions of this documentation. Currently, specific phenotype:genotype correlations regarding somatic variants should not be used as evidence to support germline pathogenicity.", "references": [ { "source": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/29493581" } ], "releaseNotes": "Submitting Pilot Rules. All pilot variants are attached in the LZTR1 submission. “Observed in ≥5 probands” removed from PM5 at Moderate strength.", "releasedUnderRevision": true, "shortTitle": "ACMG variant classification (RASopathy)", "specificationSource": "", "states": [ { "current": false, "event": { "modifiedBy": "cspecAdministrator", "name": "cspec-created", "prevState": "START", "timeStamp": "2022-08-18T19:13:08.948Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "RFWebb", "name": "pilot-rules-submitted", "prevState": "Pilot Rules In Prep", "timeStamp": "2024-12-02T21:17:35.349Z" }, "name": "Pilot Rules Submitted" }, { "current": false, "event": { "modifiedBy": "RFWebb", "name": "pilot-rules-withdrawn", "prevState": "Pilot Rules Submitted", "timeStamp": "2023-06-07T18:47:46.078Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "cspecAdministrator", "name": "pilot-rules-moved", "prevState": "Pilot Rules Submitted", "timeStamp": "2023-07-19T17:51:04.757Z" }, "name": "Classification Rules In Prep" }, { "current": false, "event": { "modifiedBy": "cspecAdministrator", "name": "classified-rules-moved", "prevState": "Classification Rules In Prep", "timeStamp": "2023-07-19T17:51:04.757Z" }, "name": "Classification Rules Submitted" }, { "current": false, "event": { "modifiedBy": "sharriso", "name": "classified-rules-approved", "prevState": "Classification Rules Submitted", "timeStamp": "2023-09-06T21:12:27.247Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "sharriso", "name": "pilot-rules-reviewed", "prevState": "Pilot Rules Submitted", "timeStamp": "2024-06-11T16:13:50.577Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "abyrne", "name": "pilot-rules-approved", "prevState": "Pilot Rules Submitted", "timeStamp": "2024-12-02T23:44:28.582Z" }, "name": "Approved For Release" }, { "current": true, "event": { "modifiedBy": "RFWebb", "name": "cspec-released", "prevState": "Approved For Release", "timeStamp": "2024-12-03T02:50:14.122Z" }, "name": "Released" }, { "current": false, "event": { "modifiedBy": "RFWebb", "name": "cspec-reopened", "prevState": "Released", "timeStamp": "2024-12-02T21:16:55.469Z" }, "name": "Pilot Rules In Prep" } ], "tagNameSpaces": [ "045" ], "title": "ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MAP2K1 Version 2.3.0", "version": "2.3.0", "versioned": true }, "entId": "GN045", "entType": "SequenceVariantInterpretation", "ld": { "CriteriaCode": [ { "created": "2024-08-03T01:16:16.410Z", "entType": "CriteriaCode", "ldhId": "1828328435", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828328435", "rev": "_i2nq7Ki---" }, { "created": "2024-08-03T01:16:16.410Z", "entType": "CriteriaCode", "ldhId": "1828328429", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828328429", "rev": "_i2nq7C2---" }, { "created": "2024-08-03T01:16:16.410Z", "entType": "CriteriaCode", "ldhId": "1828328427", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828328427", "rev": "_i2nq7a2---" }, { "created": "2024-08-03T01:16:16.410Z", "entType": "CriteriaCode", "ldhId": "1828328420", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828328420", "rev": "_i2nq7GS---" }, { "created": "2024-08-03T01:16:16.410Z", "entType": "CriteriaCode", "ldhId": "1828328441", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828328441", "rev": "_i2nq7Z----" }, { "created": "2024-08-03T01:16:16.410Z", "entType": "CriteriaCode", "ldhId": "1828328440", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828328440", "rev": "_i2nq7Ma---" }, { "created": "2024-08-03T01:16:16.410Z", "entType": "CriteriaCode", "ldhId": "1828328439", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828328439", "rev": "_i2nq7Zy---" }, { "created": "2024-08-03T01:16:16.410Z", "entType": "CriteriaCode", "ldhId": "1828328426", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828328426", "rev": "_i2nq7Si--C" }, { "created": "2024-08-03T01:16:16.410Z", "entType": "CriteriaCode", "ldhId": "1828328442", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828328442", "rev": "_i2nq7YC---" }, { "created": "2024-08-03T01:16:16.410Z", "entType": "CriteriaCode", "ldhId": "1828328436", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828328436", "rev": "_i2nq7JG---" }, { "created": "2024-08-03T01:16:16.410Z", "entType": "CriteriaCode", "ldhId": "1828328434", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828328434", "rev": "_i2nq7OK---" }, { "created": "2024-08-03T01:16:16.410Z", "entType": "CriteriaCode", "ldhId": "1828328430", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828328430", "rev": "_i2nq7Pa---" }, { "created": "2024-08-03T01:16:16.410Z", "entType": "CriteriaCode", "ldhId": "1828328428", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828328428", "rev": "_i2nq7Du---" }, { "created": "2024-08-03T01:16:16.410Z", "entType": "CriteriaCode", "ldhId": "1828328419", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828328419", "rev": "_i2nq7Ha---" }, { "created": "2024-08-03T01:16:16.410Z", "entType": "CriteriaCode", "ldhId": "1828328417", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828328417", "rev": "_i2nq7WG---" }, { "created": "2024-08-03T01:16:16.410Z", "entType": "CriteriaCode", "ldhId": "1828328416", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828328416", "rev": "_i2nq7b6---" }, { "created": "2024-08-03T01:16:16.410Z", "entType": "CriteriaCode", "ldhId": "1828328438", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828328438", "rev": "_i2nq7B----" }, { "created": "2024-08-03T01:16:16.410Z", "entType": "CriteriaCode", "ldhId": "1828328437", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828328437", "rev": "_i2nq7Ni---" }, { "created": "2024-08-03T01:16:16.410Z", "entType": "CriteriaCode", "ldhId": "1828328433", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828328433", "rev": "_i2nq7Ra--D" }, { "created": "2024-08-03T01:16:16.410Z", "entType": "CriteriaCode", "ldhId": "1828328431", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828328431", "rev": "_i2nq7CC---" }, { "created": "2024-08-03T01:16:16.410Z", "entType": "CriteriaCode", "ldhId": "1828328425", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828328425", "rev": "_i2nq7FG---" }, { "created": "2024-08-03T01:16:16.410Z", "entType": "CriteriaCode", "ldhId": "1828328423", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828328423", "rev": "_i2nq7TW---" }, { "created": "2024-08-03T01:16:16.410Z", "entType": "CriteriaCode", "ldhId": "1828328421", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828328421", "rev": "_i2nq7VS---" }, { "created": "2024-08-03T01:16:16.410Z", "entType": "CriteriaCode", "ldhId": "1828328415", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828328415", "rev": "_i2nq7XO---" }, { "created": "2024-08-03T01:16:16.410Z", "entType": "CriteriaCode", "ldhId": "1828328432", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828328432", "rev": "_i2nq7LK---" }, { "created": "2024-08-03T01:16:16.410Z", "entType": "CriteriaCode", "ldhId": "1828328424", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828328424", "rev": "_i2nq7Qi--A" }, { "created": "2024-08-03T01:16:16.410Z", "entType": "CriteriaCode", "ldhId": "1828328422", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828328422", "rev": "_i2nq7UO--G" }, { "created": "2024-08-03T01:16:16.410Z", "entType": "CriteriaCode", "ldhId": "1828328418", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828328418", "rev": "_i2nq7IW---" } ], "Disease": [ { "entId": "MONDO:0021060", "entIri": "http://purl.obolibrary.org/obo/MONDO_0021060", "entType": "Disease", "ldhId": "135642042", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642042", "rev": "_iysfmna---" }, { "entId": "MONDO:0021060", "entIri": "http://purl.obolibrary.org/obo/MONDO_0021060", "entType": "Disease", "ldhId": "135642020", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642020", "rev": "_inf5Bjm--c" } ], "Gene": [ { "entId": "MAP2K1", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6840", "entType": "Gene", "ldhId": "135641818", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/135641818", "rev": "_inf5A8---B" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "643243122", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/643243122", "rev": "_i2nq6rW---" } ] }, "ldFor": { "Organization": [ { "entId": "50021", "entIri": "http://clinicalgenome.org/affiliation/50021", "entType": "Organization", "ldhId": "135637642", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/135637642", "rev": "_inf5B_G--D" } ], "SequenceVariantInterpretation": [ { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" }, { "entId": "GN004", "entType": "SequenceVariantInterpretation", "ldhId": "135637576", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637576", "rev": "_inf5BXW--Z" } ] }, "ldhId": "643243115", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243115", "modified": "2024-12-03T02:50:15.806Z", "modifier": "RFWebb", "rev": "_i2nq6Xq---" }, { "entContent": { "approvedOn": "2024-12-03T02:51:32.326Z", "description": "These are the ACMG/AMP variant classification specifications developed by the RASopathy VCEP for HRAS.", "hideFlag": false, "legacyFullySuperseded": true, "namespace": "GN046", "notes": "These criteria should only be used to classify germline variants potentially associated with a RASopathy phenotype. Please note that these adapted criteria are not currently designed to classify variants relative to non-RASopathy phenotypes (e.g. loss of function variants in PTPN11 related to metachondromatosis); however, information about these other genotype:phenotype correlations are noted within the supplemental material. These criteria are also not designed to classify somatic variation in these genes. It is well-known that information about known somatic mutations can be utilized as supporting evidence for classifying variants relative to the RASopathy spectrum disorders given the disease mechanisms are directly correlated. Future initiatives in conjunction with the ClinGen somatic working group will aim to define this relationship in subsequent versions of this documentation. Currently, specific phenotype:genotype correlations regarding somatic variants should not be used as evidence to support germline pathogenicity.", "references": [ { "source": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/29493581" } ], "releaseNotes": "Submitting Pilot Rules. All pilot variants are attached in the LZTR1 submission. “Observed in ≥5 probands” removed from PM5 at Moderate strength.", "releasedUnderRevision": true, "shortTitle": "ACMG variant classification (RASopathy)", "specificationSource": "", "states": [ { "current": false, "event": { "modifiedBy": "cspecAdministrator", "name": "cspec-created", "prevState": "START", "timeStamp": "2022-08-18T19:13:12.804Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "RFWebb", "name": "pilot-rules-submitted", "prevState": "Pilot Rules In Prep", "timeStamp": "2024-12-02T21:19:45.052Z" }, "name": "Pilot Rules Submitted" }, { "current": false, "event": { "modifiedBy": "RFWebb", "name": "pilot-rules-withdrawn", "prevState": "Pilot Rules Submitted", "timeStamp": "2024-12-02T21:19:11.534Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "cspecAdministrator", "name": "pilot-rules-moved", "prevState": "Pilot Rules Submitted", "timeStamp": "2023-07-19T17:50:36.608Z" }, "name": "Classification Rules In Prep" }, { "current": false, "event": { "modifiedBy": "cspecAdministrator", "name": "classified-rules-moved", "prevState": "Classification Rules In Prep", "timeStamp": "2023-07-19T17:50:36.608Z" }, "name": "Classification Rules Submitted" }, { "current": false, "event": { "modifiedBy": "sharriso", "name": "classified-rules-approved", "prevState": "Classification Rules Submitted", "timeStamp": "2023-09-06T21:12:35.383Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "sharriso", "name": "pilot-rules-reviewed", "prevState": "Pilot Rules Submitted", "timeStamp": "2024-06-11T16:14:59.651Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "abyrne", "name": "pilot-rules-approved", "prevState": "Pilot Rules Submitted", "timeStamp": "2024-12-02T23:45:56.942Z" }, "name": "Approved For Release" }, { "current": true, "event": { "modifiedBy": "RFWebb", "name": "cspec-released", "prevState": "Approved For Release", "timeStamp": "2024-12-03T02:51:32.326Z" }, "name": "Released" }, { "current": false, "event": { "modifiedBy": "RFWebb", "name": "cspec-reopened", "prevState": "Released", "timeStamp": "2024-12-02T21:18:39.579Z" }, "name": "Pilot Rules In Prep" } ], "tagNameSpaces": [ "046" ], "title": "ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for HRAS Version 2.3.0", "version": "2.3.0", "versioned": true }, "entId": "GN046", "entType": "SequenceVariantInterpretation", "ld": { "CriteriaCode": [ { "created": "2024-08-03T01:15:05.085Z", "entType": "CriteriaCode", "ldhId": "1828327661", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828327661", "rev": "_i2nsHmy---" }, { "created": "2024-08-03T01:15:05.085Z", "entType": "CriteriaCode", "ldhId": "1828327650", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828327650", "rev": "_i2nsHkW---" }, { "created": "2024-08-03T01:15:05.085Z", "entType": "CriteriaCode", "ldhId": "1828327648", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828327648", "rev": "_i2nsHrS---" }, { "created": "2024-08-03T01:15:05.085Z", "entType": "CriteriaCode", "ldhId": "1828327647", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828327647", "rev": "_i2nsHsG--D" }, { "created": "2024-08-03T01:15:05.085Z", "entType": "CriteriaCode", "ldhId": "1828327643", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828327643", "rev": "_i2nsH2e---" }, { "created": "2024-08-03T01:15:05.085Z", "entType": "CriteriaCode", "ldhId": "1828327665", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828327665", "rev": "_i2nsHdm---" }, { "created": "2024-08-03T01:15:05.085Z", "entType": "CriteriaCode", "ldhId": "1828327664", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828327664", "rev": "_i2nsHwC---" }, { "created": "2024-08-03T01:15:05.085Z", "entType": "CriteriaCode", "ldhId": "1828327653", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828327653", "rev": "_i2nsHjC---" }, { "created": "2024-08-03T01:15:05.085Z", "entType": "CriteriaCode", "ldhId": "1828327651", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828327651", "rev": "_i2nsHeK---" }, { "created": "2024-08-03T01:15:05.085Z", "entType": "CriteriaCode", "ldhId": "1828327649", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828327649", "rev": "_i2nsHp2---" }, { "created": "2024-08-03T01:15:05.085Z", "entType": "CriteriaCode", "ldhId": "1828327644", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828327644", "rev": "_i2nsHx2---" }, { "created": "2024-08-03T01:15:05.085Z", "entType": "CriteriaCode", "ldhId": "1828327642", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828327642", "rev": "_i2nsH32---" }, { "created": "2024-08-03T01:15:05.085Z", "entType": "CriteriaCode", "ldhId": "1828327641", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828327641", "rev": "_i2nsHvC---" }, { "created": "2024-08-03T01:15:05.085Z", "entType": "CriteriaCode", "ldhId": "1828327640", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828327640", "rev": "_i2nsHfK---" }, { "created": "2024-08-03T01:15:05.085Z", "entType": "CriteriaCode", "ldhId": "1828327666", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828327666", "rev": "_i2nsHz----" }, { "created": "2024-08-03T01:15:05.085Z", "entType": "CriteriaCode", "ldhId": "1828327662", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828327662", "rev": "_i2nsHly---" }, { "created": "2024-08-03T01:15:05.085Z", "entType": "CriteriaCode", "ldhId": "1828327660", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828327660", "rev": "_i2nsHgO---" }, { "created": "2024-08-03T01:15:05.085Z", "entType": "CriteriaCode", "ldhId": "1828327655", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828327655", "rev": "_i2nsHhO---" }, { "created": "2024-08-03T01:15:05.085Z", "entType": "CriteriaCode", "ldhId": "1828327646", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828327646", "rev": "_i2nsHt---M" }, { "created": "2024-08-03T01:15:05.085Z", "entType": "CriteriaCode", "ldhId": "1828327645", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828327645", "rev": "_i2nsHt2---" }, { "created": "2024-08-03T01:15:05.085Z", "entType": "CriteriaCode", "ldhId": "1828327656", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828327656", "rev": "_i2nsH1y---" }, { "created": "2024-08-03T01:15:05.085Z", "entType": "CriteriaCode", "ldhId": "1828327652", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828327652", "rev": "_i2nsHo2---" }, { "created": "2024-08-03T01:15:05.085Z", "entType": "CriteriaCode", "ldhId": "1828327639", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828327639", "rev": "_i2nsHl----" }, { "created": "2024-08-03T01:15:05.085Z", "entType": "CriteriaCode", "ldhId": "1828327663", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828327663", "rev": "_i2nsH0K---" }, { "created": "2024-08-03T01:15:05.085Z", "entType": "CriteriaCode", "ldhId": "1828327659", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828327659", "rev": "_i2nsH1K---" }, { "created": "2024-08-03T01:15:05.085Z", "entType": "CriteriaCode", "ldhId": "1828327658", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828327658", "rev": "_i2nsHoK---" }, { "created": "2024-08-03T01:15:05.085Z", "entType": "CriteriaCode", "ldhId": "1828327657", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828327657", "rev": "_i2nsHxG---" }, { "created": "2024-08-03T01:15:05.085Z", "entType": "CriteriaCode", "ldhId": "1828327654", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828327654", "rev": "_i2nsHiW---" } ], "Disease": [ { "entId": "MONDO:0021060", "entIri": "http://purl.obolibrary.org/obo/MONDO_0021060", "entType": "Disease", "ldhId": "135642022", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642022", "rev": "_kZ7y8AC---" }, { "entId": "MONDO:0021060", "entIri": "http://purl.obolibrary.org/obo/MONDO_0021060", "entType": "Disease", "ldhId": "135642042", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642042", "rev": "_iysfmna---" }, { "entId": "MONDO:0021060", "entIri": "http://purl.obolibrary.org/obo/MONDO_0021060", "entType": "Disease", "ldhId": "135642020", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642020", "rev": "_inf5Bjm--c" } ], "Gene": [ { "entId": "HRAS", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5173", "entType": "Gene", "ldhId": "135641819", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/135641819", "rev": "_inf5A8---_" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "643243123", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/643243123", "rev": "_i2nsHHy---" } ] }, "ldFor": { "Organization": [ { "entId": "50021", "entIri": "http://clinicalgenome.org/affiliation/50021", "entType": "Organization", "ldhId": "135637642", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/135637642", "rev": "_inf5B_G--D" } ], "SequenceVariantInterpretation": [ { "entId": "GN004", "entType": "SequenceVariantInterpretation", "ldhId": "135637576", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637576", "rev": "_inf5BXW--Z" }, { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" } ] }, "ldhId": "643243116", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243116", "modified": "2024-12-03T02:51:34.058Z", "modifier": "RFWebb", "rev": "_i2nsGyi---" }, { "entContent": { "approvedOn": "2024-12-03T02:53:04.749Z", "description": "These are the ACMG/AMP variant classification specifications developed by the RASopathy VCEP for RIT1.", "hideFlag": false, "legacyFullySuperseded": true, "namespace": "GN047", "notes": "These criteria should only be used to classify germline variants potentially associated with a RASopathy phenotype. Please note that these adapted criteria are not currently designed to classify variants relative to non-RASopathy phenotypes (e.g. loss of function variants in PTPN11 related to metachondromatosis); however, information about these other genotype:phenotype correlations are noted within the supplemental material. These criteria are also not designed to classify somatic variation in these genes. It is well-known that information about known somatic mutations can be utilized as supporting evidence for classifying variants relative to the RASopathy spectrum disorders given the disease mechanisms are directly correlated. Future initiatives in conjunction with the ClinGen somatic working group will aim to define this relationship in subsequent versions of this documentation. Currently, specific phenotype:genotype correlations regarding somatic variants should not be used as evidence to support germline pathogenicity.", "references": [ { "source": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/29493581" } ], "releaseNotes": "Submitting Pilot Rules. All pilot variants are attached in the LZTR1 submission. “Observed in ≥5 probands” removed from PM5 at Moderate strength.", "releasedUnderRevision": true, "shortTitle": "ACMG variant classification (RASopathy)", "specificationSource": "", "states": [ { "current": false, "event": { "modifiedBy": "cspecAdministrator", "name": "cspec-created", "prevState": "START", "timeStamp": "2022-08-18T19:13:16.731Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "RFWebb", "name": "pilot-rules-submitted", "prevState": "Pilot Rules In Prep", "timeStamp": "2024-12-02T21:21:37.493Z" }, "name": "Pilot Rules Submitted" }, { "current": false, "event": { "modifiedBy": "RFWebb", "name": "pilot-rules-withdrawn", "prevState": "Pilot Rules Submitted", "timeStamp": "2023-06-08T14:27:46.530Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "cspecAdministrator", "name": "pilot-rules-moved", "prevState": "Pilot Rules Submitted", "timeStamp": "2023-07-19T18:13:33.042Z" }, "name": "Classification Rules In Prep" }, { "current": false, "event": { "modifiedBy": "cspecAdministrator", "name": "classified-rules-moved", "prevState": "Classification Rules In Prep", "timeStamp": "2023-07-19T18:13:33.042Z" }, "name": "Classification Rules Submitted" }, { "current": false, "event": { "modifiedBy": "sharriso", "name": "classified-rules-approved", "prevState": "Classification Rules Submitted", "timeStamp": "2023-09-06T21:12:43.388Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "sharriso", "name": "pilot-rules-reviewed", "prevState": "Pilot Rules Submitted", "timeStamp": "2024-06-11T16:16:25.766Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "abyrne", "name": "pilot-rules-approved", "prevState": "Pilot Rules Submitted", "timeStamp": "2024-12-02T23:46:32.545Z" }, "name": "Approved For Release" }, { "current": true, "event": { "modifiedBy": "RFWebb", "name": "cspec-released", "prevState": "Approved For Release", "timeStamp": "2024-12-03T02:53:04.749Z" }, "name": "Released" }, { "current": false, "event": { "modifiedBy": "RFWebb", "name": "cspec-reopened", "prevState": "Released", "timeStamp": "2024-12-02T21:21:06.387Z" }, "name": "Pilot Rules In Prep" } ], "tagNameSpaces": [ "047" ], "title": "ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for RIT1 Version 2.3.0", "version": "2.3.0", "versioned": true }, "entId": "GN047", "entType": "SequenceVariantInterpretation", "ld": { "CriteriaCode": [ { "created": "2024-08-03T01:14:11.111Z", "entType": "CriteriaCode", "ldhId": "1828326904", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828326904", "rev": "_i2nthxW---" }, { "created": "2024-08-03T01:14:11.111Z", "entType": "CriteriaCode", "ldhId": "1828326896", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828326896", "rev": "_i2nth1m---" }, { "created": "2024-08-03T01:14:11.111Z", "entType": "CriteriaCode", "ldhId": "1828326880", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828326880", "rev": "_i2nti-e---" }, { "created": "2024-08-03T01:14:11.111Z", "entType": "CriteriaCode", "ldhId": "1828326878", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828326878", "rev": "_i2nthte---" }, { "created": "2024-08-03T01:14:11.111Z", "entType": "CriteriaCode", "ldhId": "1828326900", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828326900", "rev": "_i2nthze---" }, { "created": "2024-08-03T01:14:11.111Z", "entType": "CriteriaCode", "ldhId": "1828326898", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828326898", "rev": "_i2nth0i---" }, { "created": "2024-08-03T01:14:11.111Z", "entType": "CriteriaCode", "ldhId": "1828326897", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828326897", "rev": "_i2nth42--A" }, { "created": "2024-08-03T01:14:11.111Z", "entType": "CriteriaCode", "ldhId": "1828326895", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828326895", "rev": "_i2nthry---" }, { "created": "2024-08-03T01:14:11.111Z", "entType": "CriteriaCode", "ldhId": "1828326905", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828326905", "rev": "_i2nti_O---" }, { "created": "2024-08-03T01:14:11.111Z", "entType": "CriteriaCode", "ldhId": "1828326902", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828326902", "rev": "_i2nth4O--D" }, { "created": "2024-08-03T01:14:11.111Z", "entType": "CriteriaCode", "ldhId": "1828326889", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828326889", "rev": "_i2nthva---" }, { "created": "2024-08-03T01:14:11.111Z", "entType": "CriteriaCode", "ldhId": "1828326884", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828326884", "rev": "_i2nth8W---" }, { "created": "2024-08-03T01:14:11.111Z", "entType": "CriteriaCode", "ldhId": "1828326881", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828326881", "rev": "_i2nthwe---" }, { "created": "2024-08-03T01:14:11.111Z", "entType": "CriteriaCode", "ldhId": "1828326893", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828326893", "rev": "_i2nth2W---" }, { "created": "2024-08-03T01:14:11.111Z", "entType": "CriteriaCode", "ldhId": "1828326892", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828326892", "rev": "_i2ntiB----" }, { "created": "2024-08-03T01:14:11.111Z", "entType": "CriteriaCode", "ldhId": "1828326891", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828326891", "rev": "_i2nth6i---" }, { "created": "2024-08-03T01:14:11.111Z", "entType": "CriteriaCode", "ldhId": "1828326888", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828326888", "rev": "_i2nth7y---" }, { "created": "2024-08-03T01:14:11.111Z", "entType": "CriteriaCode", "ldhId": "1828326887", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828326887", "rev": "_i2ntiD----" }, { "created": "2024-08-03T01:14:11.111Z", "entType": "CriteriaCode", "ldhId": "1828326886", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828326886", "rev": "_i2nth3a---" }, { "created": "2024-08-03T01:14:11.111Z", "entType": "CriteriaCode", "ldhId": "1828326883", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828326883", "rev": "_i2ntiDq---" }, { "created": "2024-08-03T01:14:11.111Z", "entType": "CriteriaCode", "ldhId": "1828326882", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828326882", "rev": "_i2nth9W---" }, { "created": "2024-08-03T01:14:11.111Z", "entType": "CriteriaCode", "ldhId": "1828326903", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828326903", "rev": "_i2nthyS---" }, { "created": "2024-08-03T01:14:11.111Z", "entType": "CriteriaCode", "ldhId": "1828326901", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828326901", "rev": "_i2nthuW---" }, { "created": "2024-08-03T01:14:11.111Z", "entType": "CriteriaCode", "ldhId": "1828326899", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828326899", "rev": "_i2ntiAG---" }, { "created": "2024-08-03T01:14:11.111Z", "entType": "CriteriaCode", "ldhId": "1828326894", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828326894", "rev": "_i2nth6C---" }, { "created": "2024-08-03T01:14:11.111Z", "entType": "CriteriaCode", "ldhId": "1828326890", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828326890", "rev": "_i2ntiB6---" }, { "created": "2024-08-03T01:14:11.111Z", "entType": "CriteriaCode", "ldhId": "1828326885", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828326885", "rev": "_i2nthse---" }, { "created": "2024-08-03T01:14:11.111Z", "entType": "CriteriaCode", "ldhId": "1828326879", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828326879", "rev": "_i2ntiEy---" } ], "Disease": [ { "entId": "MONDO:0021060", "entIri": "http://purl.obolibrary.org/obo/MONDO_0021060", "entType": "Disease", "ldhId": "135642042", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642042", "rev": "_iysfmna---" }, { "entId": "MONDO:0021060", "entIri": "http://purl.obolibrary.org/obo/MONDO_0021060", "entType": "Disease", "ldhId": "135642020", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642020", "rev": "_inf5Bjm--c" } ], "Gene": [ { "entId": "RIT1", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10023", "entType": "Gene", "ldhId": "135641820", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/135641820", "rev": "_inf5A8S--H" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "643243124", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/643243124", "rev": "_i2nthVG---" } ] }, "ldFor": { "Organization": [ { "entId": "50021", "entIri": "http://clinicalgenome.org/affiliation/50021", "entType": "Organization", "ldhId": "135637642", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/135637642", "rev": "_inf5B_G--D" } ], "SequenceVariantInterpretation": [ { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" }, { "entId": "GN004", "entType": "SequenceVariantInterpretation", "ldhId": "135637576", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637576", "rev": "_inf5BXW--Z" } ] }, "ldhId": "643243117", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243117", "modified": "2024-12-03T02:53:06.460Z", "modifier": "RFWebb", "rev": "_i2nthBm--I" }, { "entContent": { "approvedOn": "2024-12-03T02:42:18.288Z", "description": "These are the ACMG/AMP variant classification specifications developed by the RASopathy VCEP for MAP2K2.", "hideFlag": false, "legacyFullySuperseded": true, "namespace": "GN048", "notes": "These criteria should only be used to classify germline variants potentially associated with a RASopathy phenotype. Please note that these adapted criteria are not currently designed to classify variants relative to non-RASopathy phenotypes (e.g. loss of function variants in PTPN11 related to metachondromatosis); however, information about these other genotype:phenotype correlations are noted within the supplemental material. These criteria are also not designed to classify somatic variation in these genes. It is well-known that information about known somatic mutations can be utilized as supporting evidence for classifying variants relative to the RASopathy spectrum disorders given the disease mechanisms are directly correlated. Future initiatives in conjunction with the ClinGen somatic working group will aim to define this relationship in subsequent versions of this documentation. Currently, specific phenotype:genotype correlations regarding somatic variants should not be used as evidence to support germline pathogenicity.", "references": [ { "source": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/29493581" } ], "releaseNotes": "Submitting Pilot Rules. All pilot variants are attached in the LZTR1 submission. “Observed in ≥5 probands” removed from PM5 at Moderate strength.", "releasedUnderRevision": true, "shortTitle": "ACMG variant classification (RASopathy)", "specificationSource": "", "states": [ { "current": false, "event": { "modifiedBy": "cspecAdministrator", "name": "cspec-created", "prevState": "START", "timeStamp": "2022-08-18T19:13:20.429Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "RFWebb", "name": "pilot-rules-submitted", "prevState": "Pilot Rules In Prep", "timeStamp": "2024-12-02T21:24:21.988Z" }, "name": "Pilot Rules Submitted" }, { "current": false, "event": { "modifiedBy": "RFWebb", "name": "pilot-rules-withdrawn", "prevState": "Pilot Rules Submitted", "timeStamp": "2023-06-07T18:49:40.294Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "cspecAdministrator", "name": "pilot-rules-moved", "prevState": "Pilot Rules Submitted", "timeStamp": "2023-07-19T17:49:30.196Z" }, "name": "Classification Rules In Prep" }, { "current": false, "event": { "modifiedBy": "cspecAdministrator", "name": "classified-rules-moved", "prevState": "Classification Rules In Prep", "timeStamp": "2023-07-19T17:49:30.196Z" }, "name": "Classification Rules Submitted" }, { "current": false, "event": { "modifiedBy": "sharriso", "name": "classified-rules-approved", "prevState": "Classification Rules Submitted", "timeStamp": "2023-09-06T21:12:53.839Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "sharriso", "name": "pilot-rules-reviewed", "prevState": "Pilot Rules Submitted", "timeStamp": "2024-06-11T16:17:32.655Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "abyrne", "name": "pilot-rules-approved", "prevState": "Pilot Rules Submitted", "timeStamp": "2024-12-02T23:47:44.533Z" }, "name": "Approved For Release" }, { "current": true, "event": { "modifiedBy": "RFWebb", "name": "cspec-released", "prevState": "Approved For Release", "timeStamp": "2024-12-03T02:42:18.288Z" }, "name": "Released" }, { "current": false, "event": { "modifiedBy": "RFWebb", "name": "cspec-reopened", "prevState": "Released", "timeStamp": "2024-12-02T21:22:38.833Z" }, "name": "Pilot Rules In Prep" } ], "tagNameSpaces": [ "048" ], "title": "ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MAP2K2 Version 2.3.0", "version": "2.3.0", "versioned": true }, "entId": "GN048", "entType": "SequenceVariantInterpretation", "ld": { "CriteriaCode": [ { "created": "2024-08-03T01:13:05.596Z", "entType": "CriteriaCode", "ldhId": "1828326130", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828326130", "rev": "_i2njqxi---" }, { "created": "2024-08-03T01:13:05.596Z", "entType": "CriteriaCode", "ldhId": "1828326125", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828326125", "rev": "_i2njqka---" }, { "created": "2024-08-03T01:13:05.596Z", "entType": "CriteriaCode", "ldhId": "1828326124", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828326124", "rev": "_i2njqlK--A" }, { "created": "2024-08-03T01:13:05.596Z", "entType": "CriteriaCode", "ldhId": "1828326120", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828326120", "rev": "_i2njq3C---" }, { "created": "2024-08-03T01:13:05.596Z", "entType": "CriteriaCode", "ldhId": "1828326132", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828326132", "rev": "_i2njqru---" }, { "created": "2024-08-03T01:13:05.596Z", "entType": "CriteriaCode", "ldhId": "1828326112", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828326112", "rev": "_i2njq0S---" }, { "created": "2024-08-03T01:13:05.596Z", "entType": "CriteriaCode", "ldhId": "1828326108", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828326108", "rev": "_i2njqnK---" }, { "created": "2024-08-03T01:13:05.596Z", "entType": "CriteriaCode", "ldhId": "1828326134", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828326134", "rev": "_i2njqoS---" }, { "created": "2024-08-03T01:13:05.596Z", "entType": "CriteriaCode", "ldhId": "1828326133", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828326133", "rev": "_i2njq1W---" }, { "created": "2024-08-03T01:13:05.596Z", "entType": "CriteriaCode", "ldhId": "1828326128", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828326128", "rev": "_i2njqi6---" }, { "created": "2024-08-03T01:13:05.596Z", "entType": "CriteriaCode", "ldhId": "1828326123", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828326123", "rev": "_i2njqmO---" }, { "created": "2024-08-03T01:13:05.596Z", "entType": "CriteriaCode", "ldhId": "1828326119", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828326119", "rev": "_i2njqui---" }, { "created": "2024-08-03T01:13:05.596Z", "entType": "CriteriaCode", "ldhId": "1828326117", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828326117", "rev": "_i2njqyS---" }, { "created": "2024-08-03T01:13:05.596Z", "entType": "CriteriaCode", "ldhId": "1828326110", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828326110", "rev": "_i2njqwa---" }, { "created": "2024-08-03T01:13:05.596Z", "entType": "CriteriaCode", "ldhId": "1828326135", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828326135", "rev": "_i2njqh6---" }, { "created": "2024-08-03T01:13:05.596Z", "entType": "CriteriaCode", "ldhId": "1828326131", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828326131", "rev": "_i2njqo6---" }, { "created": "2024-08-03T01:13:05.596Z", "entType": "CriteriaCode", "ldhId": "1828326127", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828326127", "rev": "_i2njqjq---" }, { "created": "2024-08-03T01:13:05.596Z", "entType": "CriteriaCode", "ldhId": "1828326126", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828326126", "rev": "_i2njqp2---" }, { "created": "2024-08-03T01:13:05.596Z", "entType": "CriteriaCode", "ldhId": "1828326118", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828326118", "rev": "_i2njq3u---" }, { "created": "2024-08-03T01:13:05.596Z", "entType": "CriteriaCode", "ldhId": "1828326116", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828326116", "rev": "_i2njq5----" }, { "created": "2024-08-03T01:13:05.596Z", "entType": "CriteriaCode", "ldhId": "1828326114", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828326114", "rev": "_i2njq5y---" }, { "created": "2024-08-03T01:13:05.596Z", "entType": "CriteriaCode", "ldhId": "1828326113", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828326113", "rev": "_i2njqzG---" }, { "created": "2024-08-03T01:13:05.596Z", "entType": "CriteriaCode", "ldhId": "1828326111", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828326111", "rev": "_i2njqvq---" }, { "created": "2024-08-03T01:13:05.596Z", "entType": "CriteriaCode", "ldhId": "1828326129", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828326129", "rev": "_i2njqse---" }, { "created": "2024-08-03T01:13:05.596Z", "entType": "CriteriaCode", "ldhId": "1828326122", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828326122", "rev": "_i2njq16---" }, { "created": "2024-08-03T01:13:05.596Z", "entType": "CriteriaCode", "ldhId": "1828326121", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828326121", "rev": "_i2njqtm---" }, { "created": "2024-08-03T01:13:05.596Z", "entType": "CriteriaCode", "ldhId": "1828326115", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828326115", "rev": "_i2njqq2---" }, { "created": "2024-08-03T01:13:05.596Z", "entType": "CriteriaCode", "ldhId": "1828326109", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828326109", "rev": "_i2njq6y---" } ], "Disease": [ { "entId": "MONDO:0021060", "entIri": "http://purl.obolibrary.org/obo/MONDO_0021060", "entType": "Disease", "ldhId": "135642020", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642020", "rev": "_inf5Bjm--c" }, { "entId": "MONDO:0021060", "entIri": "http://purl.obolibrary.org/obo/MONDO_0021060", "entType": "Disease", "ldhId": "135642022", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642022", "rev": "_kZ7y8AC---" }, { "entId": "MONDO:0021060", "entIri": "http://purl.obolibrary.org/obo/MONDO_0021060", "entType": "Disease", "ldhId": "135642042", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642042", "rev": "_iysfmna---" } ], "Gene": [ { "entId": "MAP2K2", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6842", "entType": "Gene", "ldhId": "135641821", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/135641821", "rev": "_inf5A8---C" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "643243125", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/643243125", "rev": "_i2njqDe---" } ] }, "ldFor": { "Organization": [ { "entId": "50021", "entIri": "http://clinicalgenome.org/affiliation/50021", "entType": "Organization", "ldhId": "135637642", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/135637642", "rev": "_inf5B_G--D" } ], "SequenceVariantInterpretation": [ { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" }, { "entId": "GN004", "entType": "SequenceVariantInterpretation", "ldhId": "135637576", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637576", "rev": "_inf5BXW--Z" } ] }, "ldhId": "643243118", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243118", "modified": "2024-12-03T02:42:20.003Z", "modifier": "RFWebb", "rev": "_i2njpu---F" }, { "entContent": { "approvedOn": "2024-12-03T02:25:53.978Z", "description": "These are the ACMG/AMP variant classification specifications developed by the RASopathy VCEP for BRAF.", "hideFlag": false, "legacyFullySuperseded": true, "namespace": "GN049", "notes": "These criteria should only be used to classify germline variants potentially associated with a RASopathy phenotype. Please note that these adapted criteria are not currently designed to classify variants relative to non-RASopathy phenotypes (e.g. loss of function variants in PTPN11 related to metachondromatosis); however, information about these other genotype:phenotype correlations are noted within the supplemental material. These criteria are also not designed to classify somatic variation in these genes. It is well-known that information about known somatic mutations can be utilized as supporting evidence for classifying variants relative to the RASopathy spectrum disorders given the disease mechanisms are directly correlated. Future initiatives in conjunction with the ClinGen somatic working group will aim to define this relationship in subsequent versions of this documentation. Currently, specific phenotype:genotype correlations regarding somatic variants should not be used as evidence to support germline pathogenicity.", "references": [ { "source": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/29493581" } ], "releaseNotes": "Submitting Pilot Rules. All pilot variants are attached in the LZTR1 submission. “Observed in ≥5 probands” removed from PM5 at Moderate strength.", "releasedUnderRevision": true, "shortTitle": "ACMG variant classification (RASopathy)", "specificationSource": "", "states": [ { "current": false, "event": { "modifiedBy": "cspecAdministrator", "name": "cspec-created", "prevState": "START", "timeStamp": "2022-08-18T19:13:24.322Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "RFWebb", "name": "pilot-rules-submitted", "prevState": "Pilot Rules In Prep", "timeStamp": "2024-12-02T21:26:55.538Z" }, "name": "Pilot Rules Submitted" }, { "current": false, "event": { "modifiedBy": "RFWebb", "name": "pilot-rules-withdrawn", "prevState": "Pilot Rules Submitted", "timeStamp": "2023-06-07T18:18:12.960Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "cspecAdministrator", "name": "pilot-rules-moved", "prevState": "Pilot Rules Submitted", "timeStamp": "2023-07-19T17:49:03.904Z" }, "name": "Classification Rules In Prep" }, { "current": false, "event": { "modifiedBy": "cspecAdministrator", "name": "classified-rules-moved", "prevState": "Classification Rules In Prep", "timeStamp": "2023-07-19T17:49:03.904Z" }, "name": "Classification Rules Submitted" }, { "current": false, "event": { "modifiedBy": "sharriso", "name": "classified-rules-approved", "prevState": "Classification Rules Submitted", "timeStamp": "2023-09-06T21:13:05.564Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "sharriso", "name": "pilot-rules-reviewed", "prevState": "Pilot Rules Submitted", "timeStamp": "2024-06-11T16:18:46.766Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "abyrne", "name": "pilot-rules-approved", "prevState": "Pilot Rules Submitted", "timeStamp": "2024-12-02T23:48:37.609Z" }, "name": "Approved For Release" }, { "current": true, "event": { "modifiedBy": "RFWebb", "name": "cspec-released", "prevState": "Approved For Release", "timeStamp": "2024-12-03T02:25:53.978Z" }, "name": "Released" }, { "current": false, "event": { "modifiedBy": "RFWebb", "name": "cspec-reopened", "prevState": "Released", "timeStamp": "2024-12-02T21:25:57.370Z" }, "name": "Pilot Rules In Prep" } ], "tagNameSpaces": [ "049" ], "title": "ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for BRAF Version 2.3.0", "version": "2.3.0", "versioned": true }, "entId": "GN049", "entType": "SequenceVariantInterpretation", "ld": { "CriteriaCode": [ { "created": "2024-08-03T01:10:06.892Z", "entType": "CriteriaCode", "ldhId": "1828325252", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828325252", "rev": "_i2nUpQS---" }, { "created": "2024-08-03T01:10:06.892Z", "entType": "CriteriaCode", "ldhId": "1828325247", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828325247", "rev": "_i2nUpYK---" }, { "created": "2024-08-03T01:10:06.892Z", "entType": "CriteriaCode", "ldhId": "1828325246", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828325246", "rev": "_i2nUpby---" }, { "created": "2024-08-03T01:10:06.892Z", "entType": "CriteriaCode", "ldhId": "1828325233", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828325233", "rev": "_i2nUphK--_" }, { "created": "2024-08-03T01:10:06.892Z", "entType": "CriteriaCode", "ldhId": "1828325254", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828325254", "rev": "_i2nUpW----" }, { "created": "2024-08-03T01:10:06.892Z", "entType": "CriteriaCode", "ldhId": "1828325245", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828325245", "rev": "_i2nUpRm---" }, { "created": "2024-08-03T01:10:06.892Z", "entType": "CriteriaCode", "ldhId": "1828325242", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828325242", "rev": "_i2nUpZS---" }, { "created": "2024-08-03T01:10:06.892Z", "entType": "CriteriaCode", "ldhId": "1828325228", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828325228", "rev": "_i2nUpVG---" }, { "created": "2024-08-03T01:10:06.892Z", "entType": "CriteriaCode", "ldhId": "1828325250", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828325250", "rev": "_i2nUpf----" }, { "created": "2024-08-03T01:10:06.892Z", "entType": "CriteriaCode", "ldhId": "1828325239", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828325239", "rev": "_i2nUpMK---" }, { "created": "2024-08-03T01:10:06.892Z", "entType": "CriteriaCode", "ldhId": "1828325251", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828325251", "rev": "_i2nUpdy---" }, { "created": "2024-08-03T01:10:06.892Z", "entType": "CriteriaCode", "ldhId": "1828325238", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828325238", "rev": "_i2nUpNW---" }, { "created": "2024-08-03T01:10:06.892Z", "entType": "CriteriaCode", "ldhId": "1828325237", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828325237", "rev": "_i2nUpaO---" }, { "created": "2024-08-03T01:10:06.892Z", "entType": "CriteriaCode", "ldhId": "1828325236", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828325236", "rev": "_i2nUpbG---" }, { "created": "2024-08-03T01:10:06.892Z", "entType": "CriteriaCode", "ldhId": "1828325235", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828325235", "rev": "_i2nUpTK---" }, { "created": "2024-08-03T01:10:06.892Z", "entType": "CriteriaCode", "ldhId": "1828325234", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828325234", "rev": "_i2nUpgG---" }, { "created": "2024-08-03T01:10:06.892Z", "entType": "CriteriaCode", "ldhId": "1828325229", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828325229", "rev": "_i2nUpU----" }, { "created": "2024-08-03T01:10:06.892Z", "entType": "CriteriaCode", "ldhId": "1828325255", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828325255", "rev": "_i2nUpOO---" }, { "created": "2024-08-03T01:10:06.892Z", "entType": "CriteriaCode", "ldhId": "1828325253", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828325253", "rev": "_i2nUpPa---" }, { "created": "2024-08-03T01:10:06.892Z", "entType": "CriteriaCode", "ldhId": "1828325249", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828325249", "rev": "_i2nUpJC---" }, { "created": "2024-08-03T01:10:06.892Z", "entType": "CriteriaCode", "ldhId": "1828325248", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828325248", "rev": "_i2nUpX----" }, { "created": "2024-08-03T01:10:06.892Z", "entType": "CriteriaCode", "ldhId": "1828325244", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828325244", "rev": "_i2nUpKC---" }, { "created": "2024-08-03T01:10:06.892Z", "entType": "CriteriaCode", "ldhId": "1828325243", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828325243", "rev": "_i2nUpdO---" }, { "created": "2024-08-03T01:10:06.892Z", "entType": "CriteriaCode", "ldhId": "1828325241", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828325241", "rev": "_i2nUpSS---" }, { "created": "2024-08-03T01:10:06.892Z", "entType": "CriteriaCode", "ldhId": "1828325240", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828325240", "rev": "_i2nUpL----" }, { "created": "2024-08-03T01:10:06.892Z", "entType": "CriteriaCode", "ldhId": "1828325232", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828325232", "rev": "_i2nUpiG--_" }, { "created": "2024-08-03T01:10:06.892Z", "entType": "CriteriaCode", "ldhId": "1828325231", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828325231", "rev": "_i2nUpii---" }, { "created": "2024-08-03T01:10:06.892Z", "entType": "CriteriaCode", "ldhId": "1828325230", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828325230", "rev": "_i2nUpjy---" } ], "Disease": [ { "entId": "MONDO:0021060", "entIri": "http://purl.obolibrary.org/obo/MONDO_0021060", "entType": "Disease", "ldhId": "135642020", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642020", "rev": "_inf5Bjm--c" }, { "entId": "MONDO:0021060", "entIri": "http://purl.obolibrary.org/obo/MONDO_0021060", "entType": "Disease", "ldhId": "135642022", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642022", "rev": "_kZ7y8AC---" } ], "Gene": [ { "entId": "BRAF", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1097", "entType": "Gene", "ldhId": "135641822", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/135641822", "rev": "_inf5A8S---" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "643243126", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/643243126", "rev": "_i2nUozS---" } ] }, "ldFor": { "Organization": [ { "entId": "50021", "entIri": "http://clinicalgenome.org/affiliation/50021", "entType": "Organization", "ldhId": "135637642", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/135637642", "rev": "_inf5B_G--D" } ], "SequenceVariantInterpretation": [ { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" }, { "entId": "GN004", "entType": "SequenceVariantInterpretation", "ldhId": "135637576", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637576", "rev": "_inf5BXW--Z" } ] }, "ldhId": "643243119", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243119", "modified": "2024-12-03T02:25:55.692Z", "modifier": "RFWebb", "rev": "_i2nUog----" }, { "entContent": { "approvedOn": "2022-03-30T00:00:00.000Z", "hideFlag": true, "legacyFullySuperseded": false, "namespace": "GN050", "releaseNotes": "\n(1) Removal of PM2 at moderate strength and use of the PM2 cutoff at supporting strength.\n(2) Functional assay strength and evidence using the criteria from Brnich et al., including downgrading PS3 to supporting for all specified COCH assays.\n(3) Removal of PP4 and PM1 specifications of genes that are outside of the HL VCEP defined scope", "shortTitle": "Hearing Loss Variant Curation Expert Panel", "specificationSource": "https://clinicalgenome.org/site/assets/files/7814/clingen_hl_acmg_specifications_cdh23_coch_gjb2_kcnq4_myo6_myo7a_slc26a4_tecta_ush2a_v2.pdf", "states": [ { "current": true, "event": { "name": "cspec-created", "prevState": "START", "timeStamp": "2022-08-18T19:13:28.663Z" }, "name": "Pilot Rules In Prep" } ], "tagNameSpaces": [ "050" ], "title": "ClinGen Hearing Loss Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for CDH23 Version 2.0.0", "version": "2.0.0" }, "entId": "GN050", "entType": "SequenceVariantInterpretation", "ld": { "Disease": [ { "entId": "MONDO:0019501", "entIri": "http://purl.obolibrary.org/obo/MONDO_0019501", "entType": "Disease", "ldhId": "135642100", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642100", "rev": "_inf5BdO--P" }, { "entId": "MONDO:0019497", "entIri": "http://purl.obolibrary.org/obo/MONDO_0019497", "entType": "Disease", "ldhId": "135642095", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642095", "rev": "_inf5BdK--X" } ], "Gene": [ { "entId": "CDH23", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13733", "entType": "Gene", "ldhId": "135641858", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/135641858", "rev": "_inf5A8S--_" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "643243127", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/643243127", "rev": "_inf5BHa--c" } ] }, "ldFor": { "Organization": [ { "entId": "50007", "entIri": "http://clinicalgenome.org/affiliation/50007", "entType": "Organization", "ldhId": "135637631", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/135637631", "rev": "_inf5B_G--V" } ], "SequenceVariantInterpretation": [ { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" }, { "entId": "GN005", "entType": "SequenceVariantInterpretation", "ldhId": "135637577", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637577", "rev": "_inf5BXe--M" } ] }, "ldhId": "643243120", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243120", "modified": "2022-08-18T19:13:32.244Z", "modifier": "cspecAdministrator", "rev": "_inf5BXe--_" }, { "entContent": { "approvedOn": "2022-03-30T00:00:00.000Z", "hideFlag": true, "legacyFullySuperseded": false, "namespace": "GN051", "releaseNotes": "\n(1) Removal of PM2 at moderate strength and use of the PM2 cutoff at supporting strength.\n(2) Functional assay strength and evidence using the criteria from Brnich et al., including downgrading PS3 to supporting for all specified COCH assays.\n(3) Removal of PP4 and PM1 specifications of genes that are outside of the HL VCEP defined scope", "shortTitle": "Hearing Loss Variant Curation Expert Panel", "specificationSource": "https://clinicalgenome.org/site/assets/files/7814/clingen_hl_acmg_specifications_cdh23_coch_gjb2_kcnq4_myo6_myo7a_slc26a4_tecta_ush2a_v2.pdf", "states": [ { "current": true, "event": { "name": "cspec-created", "prevState": "START", "timeStamp": "2022-08-18T19:13:32.682Z" }, "name": "Pilot Rules In Prep" } ], "tagNameSpaces": [ "051" ], "title": "ClinGen Hearing Loss Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for COCH Version 2.0.0", "version": "2.0.0" }, "entId": "GN051", "entType": "SequenceVariantInterpretation", "ld": { "Disease": [ { "entId": "MONDO:0019497", "entIri": "http://purl.obolibrary.org/obo/MONDO_0019497", "entType": "Disease", "ldhId": "135642095", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642095", "rev": "_inf5BdK--X" } ], "Gene": [ { "entId": "COCH", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2180", "entType": "Gene", "ldhId": "135641857", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/135641857", "rev": "_inf5A8---A" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "643243128", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/643243128", "rev": "_inf5BHa--d" } ] }, "ldFor": { "Organization": [ { "entId": "50007", "entIri": "http://clinicalgenome.org/affiliation/50007", "entType": "Organization", "ldhId": "135637631", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/135637631", "rev": "_inf5B_G--V" } ], "SequenceVariantInterpretation": [ { "entId": "GN005", "entType": "SequenceVariantInterpretation", "ldhId": "135637577", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637577", "rev": "_inf5BXe--M" }, { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" } ] }, "ldhId": "643243121", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243121", "modified": "2022-08-18T19:13:36.425Z", "modifier": "cspecAdministrator", "rev": "_inf5BXW---" }, { "entContent": { "approvedOn": "2022-03-30T00:00:00.000Z", "hideFlag": true, "legacyFullySuperseded": false, "namespace": "GN052", "releaseNotes": "\n(1) Removal of PM2 at moderate strength and use of the PM2 cutoff at supporting strength.\n(2) Functional assay strength and evidence using the criteria from Brnich et al., including downgrading PS3 to supporting for all specified COCH assays.\n(3) Removal of PP4 and PM1 specifications of genes that are outside of the HL VCEP defined scope", "shortTitle": "Hearing Loss Variant Curation Expert Panel", "specificationSource": "https://clinicalgenome.org/site/assets/files/7814/clingen_hl_acmg_specifications_cdh23_coch_gjb2_kcnq4_myo6_myo7a_slc26a4_tecta_ush2a_v2.pdf", "states": [ { "current": true, "event": { "name": "cspec-created", "prevState": "START", "timeStamp": "2022-08-18T19:13:36.877Z" }, "name": "Pilot Rules In Prep" } ], "tagNameSpaces": [ "052" ], "title": "ClinGen Hearing Loss Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for GJB2 Version 2.0.0", "version": "2.0.0" }, "entId": "GN052", "entType": "SequenceVariantInterpretation", "ld": { "Disease": [ { "entId": "MONDO:0019497", "entIri": "http://purl.obolibrary.org/obo/MONDO_0019497", "entType": "Disease", "ldhId": "135642095", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642095", "rev": "_inf5BdK--X" } ], "Gene": [ { "entId": "GJB2", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4284", "entType": "Gene", "ldhId": "135641856", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/135641856", "rev": "_inf5A8S--C" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "643243129", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/643243129", "rev": "_inf5BHa--K" } ] }, "ldFor": { "Organization": [ { "entId": "50007", "entIri": "http://clinicalgenome.org/affiliation/50007", "entType": "Organization", "ldhId": "135637631", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/135637631", "rev": "_inf5B_G--V" } ], "SequenceVariantInterpretation": [ { "entId": "GN005", "entType": "SequenceVariantInterpretation", "ldhId": "135637577", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637577", "rev": "_inf5BXe--M" }, { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" } ] }, "ldhId": "643243122", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243122", "modified": "2022-08-18T19:13:40.396Z", "modifier": "cspecAdministrator", "rev": "_inf5BXW--A" }, { "entContent": { "approvedOn": "2022-03-30T00:00:00.000Z", "hideFlag": true, "legacyFullySuperseded": false, "namespace": "GN053", "releaseNotes": "\n(1) Removal of PM2 at moderate strength and use of the PM2 cutoff at supporting strength.\n(2) Functional assay strength and evidence using the criteria from Brnich et al., including downgrading PS3 to supporting for all specified COCH assays.\n(3) Removal of PP4 and PM1 specifications of genes that are outside of the HL VCEP defined scope", "shortTitle": "Hearing Loss Variant Curation Expert Panel", "specificationSource": "https://clinicalgenome.org/site/assets/files/7814/clingen_hl_acmg_specifications_cdh23_coch_gjb2_kcnq4_myo6_myo7a_slc26a4_tecta_ush2a_v2.pdf", "states": [ { "current": true, "event": { "name": "cspec-created", "prevState": "START", "timeStamp": "2022-08-18T19:13:40.836Z" }, "name": "Pilot Rules In Prep" } ], "tagNameSpaces": [ "053" ], "title": "ClinGen Hearing Loss Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for KCNQ4 Version 2.0.0", "version": "2.0.0" }, "entId": "GN053", "entType": "SequenceVariantInterpretation", "ld": { "Disease": [ { "entId": "MONDO:0019497", "entIri": "http://purl.obolibrary.org/obo/MONDO_0019497", "entType": "Disease", "ldhId": "135642095", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642095", "rev": "_inf5BdK--X" } ], "Gene": [ { "entId": "KCNQ4", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6298", "entType": "Gene", "ldhId": "135641851", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/135641851", "rev": "_inf5A8---C" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "643243130", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/643243130", "rev": "_inf5BHW--W" } ] }, "ldFor": { "Organization": [ { "entId": "50007", "entIri": "http://clinicalgenome.org/affiliation/50007", "entType": "Organization", "ldhId": "135637631", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/135637631", "rev": "_inf5B_G--V" } ], "SequenceVariantInterpretation": [ { "entId": "GN005", "entType": "SequenceVariantInterpretation", "ldhId": "135637577", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637577", "rev": "_inf5BXe--M" }, { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" } ] }, "ldhId": "643243123", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243123", "modified": "2022-08-18T19:13:44.249Z", "modifier": "cspecAdministrator", "rev": "_inf5BXe--A" }, { "entContent": { "approvedOn": "2022-03-30T00:00:00.000Z", "hideFlag": true, "legacyFullySuperseded": false, "namespace": "GN054", "releaseNotes": "\n(1) Removal of PM2 at moderate strength and use of the PM2 cutoff at supporting strength.\n(2) Functional assay strength and evidence using the criteria from Brnich et al., including downgrading PS3 to supporting for all specified COCH assays.\n(3) Removal of PP4 and PM1 specifications of genes that are outside of the HL VCEP defined scope", "shortTitle": "Hearing Loss Variant Curation Expert Panel", "specificationSource": "https://clinicalgenome.org/site/assets/files/7814/clingen_hl_acmg_specifications_cdh23_coch_gjb2_kcnq4_myo6_myo7a_slc26a4_tecta_ush2a_v2.pdf", "states": [ { "current": true, "event": { "name": "cspec-created", "prevState": "START", "timeStamp": "2022-08-18T19:13:44.669Z" }, "name": "Pilot Rules In Prep" } ], "tagNameSpaces": [ "054" ], "title": "ClinGen Hearing Loss Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MYO6 Version 2.0.0", "version": "2.0.0" }, "entId": "GN054", "entType": "SequenceVariantInterpretation", "ld": { "Disease": [ { "entId": "MONDO:0019497", "entIri": "http://purl.obolibrary.org/obo/MONDO_0019497", "entType": "Disease", "ldhId": "135642095", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642095", "rev": "_inf5BdK--X" } ], "Gene": [ { "entId": "MYO6", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7605", "entType": "Gene", "ldhId": "135641855", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/135641855", "rev": "_inf5A8---D" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "643243131", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/643243131", "rev": "_inf5BHa--_" } ] }, "ldFor": { "Organization": [ { "entId": "50007", "entIri": "http://clinicalgenome.org/affiliation/50007", "entType": "Organization", "ldhId": "135637631", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/135637631", "rev": "_inf5B_G--V" } ], "SequenceVariantInterpretation": [ { "entId": "GN005", "entType": "SequenceVariantInterpretation", "ldhId": "135637577", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637577", "rev": "_inf5BXe--M" }, { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" } ] }, "ldhId": "643243124", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243124", "modified": "2022-08-18T19:13:48.137Z", "modifier": "cspecAdministrator", "rev": "_inf5BXe--B" }, { "entContent": { "approvedOn": "2022-03-30T00:00:00.000Z", "hideFlag": true, "legacyFullySuperseded": false, "namespace": "GN055", "releaseNotes": "\n(1) Removal of PM2 at moderate strength and use of the PM2 cutoff at supporting strength.\n(2) Functional assay strength and evidence using the criteria from Brnich et al., including downgrading PS3 to supporting for all specified COCH assays.\n(3) Removal of PP4 and PM1 specifications of genes that are outside of the HL VCEP defined scope", "shortTitle": "Hearing Loss Variant Curation Expert Panel", "specificationSource": "https://clinicalgenome.org/site/assets/files/7814/clingen_hl_acmg_specifications_cdh23_coch_gjb2_kcnq4_myo6_myo7a_slc26a4_tecta_ush2a_v2.pdf", "states": [ { "current": true, "event": { "name": "cspec-created", "prevState": "START", "timeStamp": "2022-08-18T19:13:48.554Z" }, "name": "Pilot Rules In Prep" } ], "tagNameSpaces": [ "055" ], "title": "ClinGen Hearing Loss Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MYO7A Version 2.0.0", "version": "2.0.0" }, "entId": "GN055", "entType": "SequenceVariantInterpretation", "ld": { "Disease": [ { "entId": "MONDO:0019501", "entIri": "http://purl.obolibrary.org/obo/MONDO_0019501", "entType": "Disease", "ldhId": "135642100", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642100", "rev": "_inf5BdO--P" }, { "entId": "MONDO:0019497", "entIri": "http://purl.obolibrary.org/obo/MONDO_0019497", "entType": "Disease", "ldhId": "135642095", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642095", "rev": "_inf5BdK--X" } ], "Gene": [ { "entId": "MYO7A", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7606", "entType": "Gene", "ldhId": "135641853", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/135641853", "rev": "_inf5A8---C" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "643243132", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/643243132", "rev": "_inf5BHa--L" } ] }, "ldFor": { "Organization": [ { "entId": "50007", "entIri": "http://clinicalgenome.org/affiliation/50007", "entType": "Organization", "ldhId": "135637631", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/135637631", "rev": "_inf5B_G--V" } ], "SequenceVariantInterpretation": [ { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" }, { "entId": "GN005", "entType": "SequenceVariantInterpretation", "ldhId": "135637577", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637577", "rev": "_inf5BXe--M" } ] }, "ldhId": "643243125", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243125", "modified": "2022-08-18T19:13:52.009Z", "modifier": "cspecAdministrator", "rev": "_inf5BXe--C" }, { "entContent": { "approvedOn": "2022-03-30T00:00:00.000Z", "hideFlag": true, "legacyFullySuperseded": false, "namespace": "GN056", "releaseNotes": "\n(1) Removal of PM2 at moderate strength and use of the PM2 cutoff at supporting strength.\n(2) Functional assay strength and evidence using the criteria from Brnich et al., including downgrading PS3 to supporting for all specified COCH assays.\n(3) Removal of PP4 and PM1 specifications of genes that are outside of the HL VCEP defined scope", "shortTitle": "Hearing Loss Variant Curation Expert Panel", "specificationSource": "https://clinicalgenome.org/site/assets/files/7814/clingen_hl_acmg_specifications_cdh23_coch_gjb2_kcnq4_myo6_myo7a_slc26a4_tecta_ush2a_v2.pdf", "states": [ { "current": true, "event": { "name": "cspec-created", "prevState": "START", "timeStamp": "2022-08-18T19:13:52.441Z" }, "name": "Pilot Rules In Prep" } ], "tagNameSpaces": [ "056" ], "title": "ClinGen Hearing Loss Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SLC26A4 Version 2.0.0", "version": "2.0.0" }, "entId": "GN056", "entType": "SequenceVariantInterpretation", "ld": { "Disease": [ { "entId": "MONDO:0010134", "entIri": "http://purl.obolibrary.org/obo/MONDO_0010134", "entType": "Disease", "ldhId": "135642098", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642098", "rev": "_kZ7wpT2---" } ], "Gene": [ { "entId": "SLC26A4", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8818", "entType": "Gene", "ldhId": "135641852", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/135641852", "rev": "_inf5A8S--A" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "643243133", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/643243133", "rev": "_inf5BHa--A" } ] }, "ldFor": { "Organization": [ { "entId": "50007", "entIri": "http://clinicalgenome.org/affiliation/50007", "entType": "Organization", "ldhId": "135637631", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/135637631", "rev": "_inf5B_G--V" } ], "SequenceVariantInterpretation": [ { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" }, { "entId": "GN005", "entType": "SequenceVariantInterpretation", "ldhId": "135637577", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637577", "rev": "_inf5BXe--M" } ] }, "ldhId": "643243126", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243126", "modified": "2022-08-18T19:13:56.516Z", "modifier": "cspecAdministrator", "rev": "_inf5BXi--O" }, { "entContent": { "approvedOn": "2022-03-30T00:00:00.000Z", "hideFlag": true, "legacyFullySuperseded": false, "namespace": "GN057", "releaseNotes": "\n(1) Removal of PM2 at moderate strength and use of the PM2 cutoff at supporting strength.\n(2) Functional assay strength and evidence using the criteria from Brnich et al., including downgrading PS3 to supporting for all specified COCH assays.\n(3) Removal of PP4 and PM1 specifications of genes that are outside of the HL VCEP defined scope", "shortTitle": "Hearing Loss Variant Curation Expert Panel", "specificationSource": "https://clinicalgenome.org/site/assets/files/7814/clingen_hl_acmg_specifications_cdh23_coch_gjb2_kcnq4_myo6_myo7a_slc26a4_tecta_ush2a_v2.pdf", "states": [ { "current": true, "event": { "name": "cspec-created", "prevState": "START", "timeStamp": "2022-08-18T19:13:56.935Z" }, "name": "Pilot Rules In Prep" } ], "tagNameSpaces": [ "057" ], "title": "ClinGen Hearing Loss Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for TECTA Version 2.0.0", "version": "2.0.0" }, "entId": "GN057", "entType": "SequenceVariantInterpretation", "ld": { "Disease": [ { "entId": "MONDO:0019497", "entIri": "http://purl.obolibrary.org/obo/MONDO_0019497", "entType": "Disease", "ldhId": "135642095", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642095", "rev": "_inf5BdK--X" } ], "Gene": [ { "entId": "TECTA", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11720", "entType": "Gene", "ldhId": "135641850", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/135641850", "rev": "_inf5A8---G" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "643243134", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/643243134", "rev": "_inf5BHO--P" } ] }, "ldFor": { "Organization": [ { "entId": "50007", "entIri": "http://clinicalgenome.org/affiliation/50007", "entType": "Organization", "ldhId": "135637631", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/135637631", "rev": "_inf5B_G--V" } ], "SequenceVariantInterpretation": [ { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" }, { "entId": "GN005", "entType": "SequenceVariantInterpretation", "ldhId": "135637577", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637577", "rev": "_inf5BXe--M" } ] }, "ldhId": "643243127", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243127", "modified": "2022-08-18T19:14:00.553Z", "modifier": "cspecAdministrator", "rev": "_inf5BXK---" }, { "entContent": { "approvedOn": "2022-03-30T00:00:00.000Z", "hideFlag": true, "legacyFullySuperseded": false, "namespace": "GN058", "releaseNotes": "\n(1) Removal of PM2 at moderate strength and use of the PM2 cutoff at supporting strength.\n(2) Functional assay strength and evidence using the criteria from Brnich et al., including downgrading PS3 to supporting for all specified COCH assays.\n(3) Removal of PP4 and PM1 specifications of genes that are outside of the HL VCEP defined scope", "shortTitle": "Hearing Loss Variant Curation Expert Panel", "specificationSource": "https://clinicalgenome.org/site/assets/files/7814/clingen_hl_acmg_specifications_cdh23_coch_gjb2_kcnq4_myo6_myo7a_slc26a4_tecta_ush2a_v2.pdf", "states": [ { "current": true, "event": { "name": "cspec-created", "prevState": "START", "timeStamp": "2022-08-18T19:14:00.973Z" }, "name": "Pilot Rules In Prep" } ], "tagNameSpaces": [ "058" ], "title": "ClinGen Hearing Loss Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for USH2A Version 2.0.0", "version": "2.0.0" }, "entId": "GN058", "entType": "SequenceVariantInterpretation", "ld": { "Disease": [ { "entId": "MONDO:0019501", "entIri": "http://purl.obolibrary.org/obo/MONDO_0019501", "entType": "Disease", "ldhId": "135642100", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642100", "rev": "_inf5BdO--P" } ], "Gene": [ { "entId": "USH2A", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12601", "entType": "Gene", "ldhId": "135641854", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/135641854", "rev": "_inf5A8---H" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "643243135", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/643243135", "rev": "_inf5BHa--C" } ] }, "ldFor": { "Organization": [ { "entId": "50007", "entIri": "http://clinicalgenome.org/affiliation/50007", "entType": "Organization", "ldhId": "135637631", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/135637631", "rev": "_inf5B_G--V" } ], "SequenceVariantInterpretation": [ { "entId": "GN005", "entType": "SequenceVariantInterpretation", "ldhId": "135637577", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637577", "rev": "_inf5BXe--M" }, { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" } ] }, "ldhId": "643243128", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243128", "modified": "2022-08-18T19:14:04.611Z", "modifier": "cspecAdministrator", "rev": "_inf5BXK--A" }, { "entContent": { "approvedOn": "2021-11-01T00:00:00.000Z", "hideFlag": true, "legacyFullySuperseded": false, "namespace": "GN059", "notes": "", "references": [], "releaseNotes": "Updated MONDO ID for Glanzmann thrombasthenia from MONDO:0010119 to MONDO:0100326 (November 2021).", "shortTitle": "ACMG variant classification Platelet Disorders", "specificationSource": "https://clinicalgenome.org/docs/clingen-platelet-disorders-expert-panel-specifications-to-the-acmg-amp-variant-interpretation-guidelines-version-2.1/", "states": [ { "current": true, "event": { "name": "cspec-created", "prevState": "START", "timeStamp": "2022-08-18T19:14:05.385Z" }, "name": "Pilot Rules In Prep" } ], "tagNameSpaces": [ "059" ], "title": "ClinGen Platelet Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for ITGA2B Version 2.1.0", "version": "2.1.0" }, "entId": "GN059", "entType": "SequenceVariantInterpretation", "ld": { "Disease": [ { "entId": "MONDO:0100326", "entIri": "http://purl.obolibrary.org/obo/MONDO_0100326", "entType": "Disease", "ldhId": "467880243", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/467880243", "rev": "_kZ7z7IO---" } ], "Gene": [ { "entId": "ITGA2B", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6138", "entType": "Gene", "ldhId": "135641918", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/135641918", "rev": "_inf5A8S--D" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "643243136", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/643243136", "rev": "_inf5BHa--e" } ] }, "ldFor": { "Organization": [ { "entId": "50040", "entIri": "https://www.clinicalgenome.org/affiliation/50040", "entType": "Organization", "ldhId": "135637652", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/135637652", "rev": "_inf5B_---B" } ], "SequenceVariantInterpretation": [ { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" }, { "entId": "GN011", "entType": "SequenceVariantInterpretation", "ldhId": "135637583", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637583", "rev": "_inf5BXW--G" } ] }, "ldhId": "643243129", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243129", "modified": "2022-08-18T19:14:09.167Z", "modifier": "cspecAdministrator", "rev": "_inf5BXe--D" }, { "entContent": { "approvedOn": "2021-11-01T00:00:00.000Z", "hideFlag": true, "legacyFullySuperseded": false, "namespace": "GN060", "notes": "", "references": [], "releaseNotes": "Updated MONDO ID for Glanzmann thrombasthenia from MONDO:0010119 to MONDO:0100326 (November 2021).", "shortTitle": "ACMG variant classification Platelet Disorders", "specificationSource": "https://clinicalgenome.org/docs/clingen-platelet-disorders-expert-panel-specifications-to-the-acmg-amp-variant-interpretation-guidelines-version-2.1/", "states": [ { "current": true, "event": { "name": "cspec-created", "prevState": "START", "timeStamp": "2022-08-18T19:14:09.607Z" }, "name": "Pilot Rules In Prep" } ], "tagNameSpaces": [ "060" ], "title": "ClinGen Platelet Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for ITGB3 Version 2.1.0", "version": "2.1.0" }, "entId": "GN060", "entType": "SequenceVariantInterpretation", "ld": { "Disease": [ { "entId": "MONDO:0100326", "entIri": "http://purl.obolibrary.org/obo/MONDO_0100326", "entType": "Disease", "ldhId": "467880243", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/467880243", "rev": "_kZ7z7IO---" } ], "Gene": [ { "entId": "ITGB3", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6156", "entType": "Gene", "ldhId": "135641919", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/135641919", "rev": "_inf5A8---B" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "643243137", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/643243137", "rev": "_inf5BHW--Y" } ] }, "ldFor": { "Organization": [ { "entId": "50040", "entIri": "https://www.clinicalgenome.org/affiliation/50040", "entType": "Organization", "ldhId": "135637652", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/135637652", "rev": "_inf5B_---B" } ], "SequenceVariantInterpretation": [ { "entId": "GN011", "entType": "SequenceVariantInterpretation", "ldhId": "135637583", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637583", "rev": "_inf5BXW--G" }, { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" } ] }, "ldhId": "643243130", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243130", "modified": "2022-08-18T19:14:13.243Z", "modifier": "cspecAdministrator", "rev": "_inf5BXW--B" }, { "entContent": { "approvedOn": "2021-05-15T00:00:00.000Z", "hideFlag": true, "legacyFullySuperseded": false, "namespace": "GN061", "releaseNotes": "The following criteria descriptions were modified for clarity based on feedback:\n\n* PS2 modified to make the distinction between PS2\\_strong vs PS2\\_moderate more clear and provide an example within the text\n* PS3 modified so it is clear the supplementary document applies to the SVI recommendation and not the animal model section\n* PS4’s upper margins were modified to make it clear that curators should not round off any of the values in Table 2A since it is not possible to obtain a value that is .99 or .49\n* BA1 and BS1 calculations corrected, rational provided in supplement\n* BS2 modified to make it clear that either homozygous instances in gnomAD or phenotyped family members can be utilized for this criterion\n* BP2 modified to indicate that this criterion can be used for either a cis or trans variant\n* BP4 modified to be consistent with detailed description provided later in the document", "shortTitle": "Brain Malformations Specification", "specificationSource": "https://clinicalgenome.org/docs/clingen-brain-malformations-expert-panel-specifications-to-the-acmg-amp-variant-interpretation-guidelines-version-1.1/", "states": [ { "current": true, "event": { "name": "cspec-created", "prevState": "START", "timeStamp": "2022-08-18T19:14:13.987Z" }, "name": "Pilot Rules In Prep" } ], "tagNameSpaces": [ "061" ], "title": "ClinGen Brain Malformations Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for AKT3 Version 1.0.0", "version": "1.1.0" }, "entId": "GN061", "entType": "SequenceVariantInterpretation", "ld": { "Disease": [ { "entId": "MONDO:0016054", "entIri": "http://purl.obolibrary.org/obo/MONDO_0016054", "entType": "Disease", "ldhId": "467882125", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/467882125", "rev": "_kZ7x4by---" } ], "Gene": [ { "entId": "AKT3", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:393", "entType": "Gene", "ldhId": "467816839", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/467816839", "rev": "_inf5A8O--T" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "643243138", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/643243138", "rev": "_inf5BHa--f" } ] }, "ldFor": { "Organization": [ { "entId": "50020", "entIri": "http://clinicalgenome.org/affiliation/50020", "entType": "Organization", "ldhId": "135637641", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/135637641", "rev": "_inf5B_G--B" } ], "SequenceVariantInterpretation": [ { "entId": "GN018", "entType": "SequenceVariantInterpretation", "ldhId": "467907148", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/467907148", "rev": "_inf5BXe--P" }, { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" } ] }, "ldhId": "643243131", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243131", "modified": "2022-11-11T18:08:11.946Z", "modifier": "cspecAdministrator", "rev": "_inf5BXW--L" }, { "entContent": { "approvedOn": "2021-05-15T00:00:00.000Z", "hideFlag": true, "legacyFullySuperseded": false, "namespace": "GN062", "releaseNotes": "The following criteria descriptions were modified for clarity based on feedback:\n\n* PS2 modified to make the distinction between PS2\\_strong vs PS2\\_moderate more clear and provide an example within the text\n* PS3 modified so it is clear the supplementary document applies to the SVI recommendation and not the animal model section\n* PS4’s upper margins were modified to make it clear that curators should not round off any of the values in Table 2A since it is not possible to obtain a value that is .99 or .49\n* BA1 and BS1 calculations corrected, rational provided in supplement\n* BS2 modified to make it clear that either homozygous instances in gnomAD or phenotyped family members can be utilized for this criterion\n* BP2 modified to indicate that this criterion can be used for either a cis or trans variant\n* BP4 modified to be consistent with detailed description provided later in the document", "shortTitle": "Brain Malformations Specification", "specificationSource": "https://clinicalgenome.org/docs/clingen-brain-malformations-expert-panel-specifications-to-the-acmg-amp-variant-interpretation-guidelines-version-1.1/", "states": [ { "current": true, "event": { "name": "cspec-created", "prevState": "START", "timeStamp": "2022-08-18T19:14:18.044Z" }, "name": "Pilot Rules In Prep" } ], "tagNameSpaces": [ "062" ], "title": "ClinGen Brain Malformations Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MTOR Version 1.0.0", "version": "1.1.0" }, "entId": "GN062", "entType": "SequenceVariantInterpretation", "ld": { "Disease": [ { "entId": "MONDO:0016054", "entIri": "http://purl.obolibrary.org/obo/MONDO_0016054", "entType": "Disease", "ldhId": "467882125", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/467882125", "rev": "_kZ7x4by---" } ], "Gene": [ { "entId": "MTOR", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3942", "entType": "Gene", "ldhId": "467840946", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/467840946", "rev": "_inf5Bs---n" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "643243139", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/643243139", "rev": "_inf5BHa--g" } ] }, "ldFor": { "Organization": [ { "entId": "50020", "entIri": "http://clinicalgenome.org/affiliation/50020", "entType": "Organization", "ldhId": "135637641", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/135637641", "rev": "_inf5B_G--B" } ], "SequenceVariantInterpretation": [ { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" }, { "entId": "GN018", "entType": "SequenceVariantInterpretation", "ldhId": "467907148", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/467907148", "rev": "_inf5BXe--P" } ] }, "ldhId": "643243132", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243132", "modified": "2022-11-11T18:08:12.113Z", "modifier": "cspecAdministrator", "rev": "_inf5BXe--E" }, { "entContent": { "approvedOn": "2021-05-15T00:00:00.000Z", "hideFlag": true, "legacyFullySuperseded": false, "namespace": "GN063", "releaseNotes": "The following criteria descriptions were modified for clarity based on feedback:\n\n* PS2 modified to make the distinction between PS2\\_strong vs PS2\\_moderate more clear and provide an example within the text\n* PS3 modified so it is clear the supplementary document applies to the SVI recommendation and not the animal model section\n* PS4’s upper margins were modified to make it clear that curators should not round off any of the values in Table 2A since it is not possible to obtain a value that is .99 or .49\n* BA1 and BS1 calculations corrected, rational provided in supplement\n* BS2 modified to make it clear that either homozygous instances in gnomAD or phenotyped family members can be utilized for this criterion\n* BP2 modified to indicate that this criterion can be used for either a cis or trans variant\n* BP4 modified to be consistent with detailed description provided later in the document", "shortTitle": "Brain Malformations Specification", "specificationSource": "https://clinicalgenome.org/docs/clingen-brain-malformations-expert-panel-specifications-to-the-acmg-amp-variant-interpretation-guidelines-version-1.1/", "states": [ { "current": true, "event": { "name": "cspec-created", "prevState": "START", "timeStamp": "2022-08-18T19:14:21.885Z" }, "name": "Pilot Rules In Prep" } ], "tagNameSpaces": [ "063" ], "title": "ClinGen Brain Malformations Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for PIK3CA Version 1.0.0", "version": "1.1.0" }, "entId": "GN063", "entType": "SequenceVariantInterpretation", "ld": { "Disease": [ { "entId": "MONDO:0016054", "entIri": "http://purl.obolibrary.org/obo/MONDO_0016054", "entType": "Disease", "ldhId": "467882125", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/467882125", "rev": "_kZ7x4by---" } ], "Gene": [ { "entId": "PIK3CA", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8975", "entType": "Gene", "ldhId": "467845243", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/467845243", "rev": "_inf5B0q--N" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "643243140", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/643243140", "rev": "_inf5BHa--D" } ] }, "ldFor": { "Organization": [ { "entId": "50020", "entIri": "http://clinicalgenome.org/affiliation/50020", "entType": "Organization", "ldhId": "135637641", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/135637641", "rev": "_inf5B_G--B" } ], "SequenceVariantInterpretation": [ { "entId": "GN018", "entType": "SequenceVariantInterpretation", "ldhId": "467907148", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/467907148", "rev": "_inf5BXe--P" }, { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" } ] }, "ldhId": "643243133", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243133", "modified": "2022-11-11T18:08:12.252Z", "modifier": "cspecAdministrator", "rev": "_inf5BXW--N" }, { "entContent": { "approvedOn": "2021-05-15T00:00:00.000Z", "hideFlag": true, "legacyFullySuperseded": false, "namespace": "GN064", "releaseNotes": "The following criteria descriptions were modified for clarity based on feedback:\n\n* PS2 modified to make the distinction between PS2\\_strong vs PS2\\_moderate more clear and provide an example within the text\n* PS3 modified so it is clear the supplementary document applies to the SVI recommendation and not the animal model section\n* PS4’s upper margins were modified to make it clear that curators should not round off any of the values in Table 2A since it is not possible to obtain a value that is .99 or .49\n* BA1 and BS1 calculations corrected, rational provided in supplement\n* BS2 modified to make it clear that either homozygous instances in gnomAD or phenotyped family members can be utilized for this criterion\n* BP2 modified to indicate that this criterion can be used for either a cis or trans variant\n* BP4 modified to be consistent with detailed description provided later in the document", "shortTitle": "Brain Malformations Specification", "specificationSource": "https://clinicalgenome.org/docs/clingen-brain-malformations-expert-panel-specifications-to-the-acmg-amp-variant-interpretation-guidelines-version-1.1/", "states": [ { "current": true, "event": { "name": "cspec-created", "prevState": "START", "timeStamp": "2022-08-18T19:14:25.817Z" }, "name": "Pilot Rules In Prep" } ], "tagNameSpaces": [ "064" ], "title": "ClinGen Brain Malformations Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for PIK3R2 Version 1.0.0", "version": "1.1.0" }, "entId": "GN064", "entType": "SequenceVariantInterpretation", "ld": { "Disease": [ { "entId": "MONDO:0016054", "entIri": "http://purl.obolibrary.org/obo/MONDO_0016054", "entType": "Disease", "ldhId": "467882125", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/467882125", "rev": "_kZ7x4by---" } ], "Gene": [ { "entId": "PIK3R2", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8980", "entType": "Gene", "ldhId": "467845253", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/467845253", "rev": "_inf5B0q--j" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "643243141", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/643243141", "rev": "_inf5BHa--i" } ] }, "ldFor": { "Organization": [ { "entId": "50020", "entIri": "http://clinicalgenome.org/affiliation/50020", "entType": "Organization", "ldhId": "135637641", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/135637641", "rev": "_inf5B_G--B" } ], "SequenceVariantInterpretation": [ { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" }, { "entId": "GN018", "entType": "SequenceVariantInterpretation", "ldhId": "467907148", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/467907148", "rev": "_inf5BXe--P" } ] }, "ldhId": "643243134", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243134", "modified": "2022-11-11T18:08:12.421Z", "modifier": "cspecAdministrator", "rev": "_inf5BXi--P" }, { "entContent": { "approvedOn": "2022-03-30T00:00:00.000Z", "hideFlag": true, "legacyFullySuperseded": false, "namespace": "GN065", "shortTitle": "Hearing Loss Variant Curation Expert Panel", "specificationSource": "https://clinicalgenome.org/site/assets/files/7814/clingen_hl_acmg_specifications_otof_myo15a_v1.pdf", "states": [ { "current": true, "event": { "name": "cspec-created", "prevState": "START", "timeStamp": "2022-08-18T19:14:29.942Z" }, "name": "Pilot Rules In Prep" } ], "tagNameSpaces": [ "065" ], "title": "ClinGen Hearing Loss Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MYO15A Version 1.0.0", "version": "1.0.0" }, "entId": "GN065", "entType": "SequenceVariantInterpretation", "ld": { "Disease": [ { "entId": "MONDO:0019497", "entIri": "http://purl.obolibrary.org/obo/MONDO_0019497", "entType": "Disease", "ldhId": "135642095", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642095", "rev": "_inf5BdK--X" } ], "Gene": [ { "entId": "MYO15A", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7594", "entType": "Gene", "ldhId": "467841177", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/467841177", "rev": "_inf5BsK--D" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "643243142", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/643243142", "rev": "_inf5BHW--Z" } ] }, "ldFor": { "Organization": [ { "entId": "50007", "entIri": "http://clinicalgenome.org/affiliation/50007", "entType": "Organization", "ldhId": "135637631", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/135637631", "rev": "_inf5B_G--V" } ], "SequenceVariantInterpretation": [ { "entId": "GN023", "entType": "SequenceVariantInterpretation", "ldhId": "643243093", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243093", "rev": "_inf5BXi--W" }, { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" } ] }, "ldhId": "643243135", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243135", "modified": "2022-08-18T19:14:33.523Z", "modifier": "cspecAdministrator", "rev": "_inf5BXW--J" }, { "entContent": { "approvedOn": "2022-03-30T00:00:00.000Z", "hideFlag": true, "legacyFullySuperseded": false, "namespace": "GN066", "shortTitle": "Hearing Loss Variant Curation Expert Panel", "specificationSource": "https://clinicalgenome.org/site/assets/files/7814/clingen_hl_acmg_specifications_otof_myo15a_v1.pdf", "states": [ { "current": true, "event": { "name": "cspec-created", "prevState": "START", "timeStamp": "2022-08-18T19:14:33.937Z" }, "name": "Pilot Rules In Prep" } ], "tagNameSpaces": [ "066" ], "title": "ClinGen Hearing Loss Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for OTOF Version 1.0.0", "version": "1.0.0" }, "entId": "GN066", "entType": "SequenceVariantInterpretation", "ld": { "Disease": [ { "entId": "MONDO:0019497", "entIri": "http://purl.obolibrary.org/obo/MONDO_0019497", "entType": "Disease", "ldhId": "135642095", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642095", "rev": "_inf5BdK--X" } ], "Gene": [ { "entId": "OTOF", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8515", "entType": "Gene", "ldhId": "467844034", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/467844034", "rev": "_inf5B0W--i" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "643243143", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/643243143", "rev": "_inf5BHa--F" } ] }, "ldFor": { "Organization": [ { "entId": "50007", "entIri": "http://clinicalgenome.org/affiliation/50007", "entType": "Organization", "ldhId": "135637631", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/135637631", "rev": "_inf5B_G--V" } ], "SequenceVariantInterpretation": [ { "entId": "GN023", "entType": "SequenceVariantInterpretation", "ldhId": "643243093", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243093", "rev": "_inf5BXi--W" }, { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" } ] }, "ldhId": "643243136", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243136", "modified": "2022-08-18T19:14:37.292Z", "modifier": "cspecAdministrator", "rev": "_inf5BXO---" }, { "entContent": { "approvedOn": "2025-01-07T15:43:33.009Z", "description": "SCN1A\n ", "namespace": "GN067", "releaseNotes": "Release contains updates to exon numbering and revised PM1 table.", "releasedUnderRevision": true, "shortTitle": "Epilepsy Sodium Channel Specification", "specificationSource": "", "states": [ { "current": false, "event": { "modifiedBy": "laceysmith", "name": "cspec-created", "prevState": "START", "timeStamp": "2022-08-25T12:32:02.290Z" }, "name": "Classification Rules In Prep" }, { "current": false, "event": { "modifiedBy": "laceysmith", "name": "classified-rules-submitted", "prevState": "Classification Rules In Prep", "timeStamp": "2023-02-17T19:56:03.778Z" }, "name": "Classification Rules Submitted" }, { "current": false, "event": { "modifiedBy": "strande@email.unc.edu", "name": "classified-rules-reviewed", "prevState": "Classification Rules Submitted", "timeStamp": "2022-10-22T15:34:25.209Z" }, "name": "Classification Rules In Prep" }, { "current": false, "event": { "modifiedBy": "strande@email.unc.edu", "name": "classified-rules-approved", "prevState": "Classification Rules Submitted", "timeStamp": "2023-04-22T14:47:24.019Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "laceysmith", "name": "pilot-rules-submitted", "prevState": "Pilot Rules In Prep", "timeStamp": "2024-12-19T15:34:47.081Z" }, "name": "Pilot Rules Submitted" }, { "current": false, "event": { "modifiedBy": "tsneddon", "name": "pilot-rules-reviewed", "prevState": "Pilot Rules Submitted", "timeStamp": "2024-12-19T15:30:56.270Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "tsneddon", "name": "pilot-rules-approved", "prevState": "Pilot Rules Submitted", "timeStamp": "2024-12-19T16:06:07.116Z" }, "name": "Approved For Release" }, { "current": true, "event": { "modifiedBy": "laceysmith", "name": "cspec-released", "prevState": "Approved For Release", "timeStamp": "2025-01-07T15:43:33.009Z" }, "name": "Released" }, { "current": false, "event": { "modifiedBy": "laceysmith", "name": "cspec-reopened", "prevState": "Released", "timeStamp": "2024-10-24T13:54:55.783Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "laceysmith", "name": "pilot-rules-withdrawn", "prevState": "Pilot Rules Submitted", "timeStamp": "2024-10-24T14:22:42.387Z" }, "name": "Pilot Rules In Prep" } ], "tagNameSpaces": [ "067" ], "title": "ClinGen Epilepsy Sodium Channel Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SCN1A Version 2.0.0", "version": "2.0.0", "versioned": true }, "entId": "GN067", "entType": "SequenceVariantInterpretation", "ld": { "CriteriaCode": [ { "created": "2024-03-19T18:40:49.390Z", "entType": "CriteriaCode", "ldhId": "1746110684", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746110684", "rev": "_jCDtftG---" }, { "created": "2024-03-19T18:40:49.390Z", "entType": "CriteriaCode", "ldhId": "1746110683", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746110683", "rev": "_jCDtfue---" }, { "created": "2024-03-19T18:40:49.390Z", "entType": "CriteriaCode", "ldhId": "1746110678", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746110678", "rev": "_jCDtf3----" }, { "created": "2024-03-19T18:40:49.390Z", "entType": "CriteriaCode", "ldhId": "1746110668", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746110668", "rev": "_jCDtf6----" }, { "created": "2024-03-19T18:40:49.390Z", "entType": "CriteriaCode", "ldhId": "1746110665", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746110665", "rev": "_jCDtgI6---" }, { "created": "2024-03-19T18:40:49.390Z", "entType": "CriteriaCode", "ldhId": "1746110663", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746110663", "rev": "_jCDtfz6---" }, { "created": "2024-03-19T18:40:49.390Z", "entType": "CriteriaCode", "ldhId": "1746110661", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746110661", "rev": "_jCDtgH----" }, { "created": "2024-03-19T18:40:49.390Z", "entType": "CriteriaCode", "ldhId": "1746110659", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746110659", "rev": "_jCDtgAi---" }, { "created": "2024-03-19T18:40:49.390Z", "entType": "CriteriaCode", "ldhId": "1746110674", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746110674", "rev": "_jCDtg-S---" }, { "created": "2024-03-19T18:40:49.390Z", "entType": "CriteriaCode", "ldhId": "1746110667", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746110667", "rev": "_jCDtgFW---" }, { "created": "2024-03-19T18:40:49.390Z", "entType": "CriteriaCode", "ldhId": "1746110680", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746110680", "rev": "_jCDtf9O---" }, { "created": "2024-03-19T18:40:49.390Z", "entType": "CriteriaCode", "ldhId": "1746110679", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746110679", "rev": "_jCDtgCK---" }, { "created": "2024-03-19T18:40:49.390Z", "entType": "CriteriaCode", "ldhId": "1746110676", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746110676", "rev": "_jCDtf3q---" }, { "created": "2024-03-19T18:40:49.390Z", "entType": "CriteriaCode", "ldhId": "1746110675", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746110675", "rev": "_jCDtgIK---" }, { "created": "2024-03-19T18:40:49.390Z", "entType": "CriteriaCode", "ldhId": "1746110671", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746110671", "rev": "_jCDtfvu---" }, { "created": "2024-03-19T18:40:49.390Z", "entType": "CriteriaCode", "ldhId": "1746110669", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746110669", "rev": "_jCDtfwm---" }, { "created": "2024-03-19T18:40:49.390Z", "entType": "CriteriaCode", "ldhId": "1746110664", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746110664", "rev": "_jCDtfyu---" }, { "created": "2024-03-19T18:40:49.390Z", "entType": "CriteriaCode", "ldhId": "1746110685", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746110685", "rev": "_jCDtf1u---" }, { "created": "2024-03-19T18:40:49.390Z", "entType": "CriteriaCode", "ldhId": "1746110682", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746110682", "rev": "_jCDtgBO---" }, { "created": "2024-03-19T18:40:49.390Z", "entType": "CriteriaCode", "ldhId": "1746110677", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746110677", "rev": "_jCDtgDS---" }, { "created": "2024-03-19T18:40:49.390Z", "entType": "CriteriaCode", "ldhId": "1746110673", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746110673", "rev": "_jCDtg_q---" }, { "created": "2024-03-19T18:40:49.390Z", "entType": "CriteriaCode", "ldhId": "1746110670", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746110670", "rev": "_jCDtgEC---" }, { "created": "2024-03-19T18:40:49.390Z", "entType": "CriteriaCode", "ldhId": "1746110662", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746110662", "rev": "_jCDtgGa---" }, { "created": "2024-03-19T18:40:49.390Z", "entType": "CriteriaCode", "ldhId": "1746110686", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746110686", "rev": "_jCDtf0m---" }, { "created": "2024-03-19T18:40:49.390Z", "entType": "CriteriaCode", "ldhId": "1746110681", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746110681", "rev": "_jCDtf8----" }, { "created": "2024-03-19T18:40:49.390Z", "entType": "CriteriaCode", "ldhId": "1746110672", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746110672", "rev": "_jCDtf5K---" }, { "created": "2024-03-19T18:40:49.390Z", "entType": "CriteriaCode", "ldhId": "1746110666", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746110666", "rev": "_jCDtfxy---" }, { "created": "2024-03-19T18:40:49.390Z", "entType": "CriteriaCode", "ldhId": "1746110660", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746110660", "rev": "_jCDtf62---" } ], "Disease": [ { "entId": "MONDO:0018214", "entIri": "http://purl.obolibrary.org/obo/MONDO_0018214", "entType": "Disease", "ldhId": "467877022", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/467877022", "rev": "_kZ7yWEu---" }, { "entId": "MONDO:0100062", "entIri": "http://purl.obolibrary.org/obo/MONDO_0100062", "entType": "Disease", "ldhId": "467881472", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/467881472", "rev": "_kZ7z39S---" }, { "entId": "MONDO:0100135", "entIri": "http://purl.obolibrary.org/obo/MONDO_0100135", "entType": "Disease", "ldhId": "467880999", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/467880999", "rev": "_kZ7z5Yi---" } ], "Gene": [ { "entId": "SCN1A", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10585", "entType": "Gene", "ldhId": "467855388", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/467855388", "rev": "_inf5CFu--I" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "643243144", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/643243144", "rev": "_jCDtfSu---" } ] }, "ldFor": { "Organization": [ { "entId": "50105", "entIri": "http://clinicalgenome.org/affiliation/50105", "entType": "Organization", "ldhId": "639508904", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/639508904", "rev": "_inf5B-2--J" } ], "SequenceVariantInterpretation": [ { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" } ] }, "ldhId": "643243137", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243137", "modified": "2025-01-07T15:43:34.856Z", "modifier": "laceysmith", "rev": "_jCDtf-O---" }, { "entContent": { "approvedOn": "2025-01-07T15:44:54.067Z", "description": "SCN2A", "namespace": "GN068", "releaseNotes": "Release contains updates to transcript information and exon numbering. We have also revised the PM1 table, which slightly alters the amino acid positions that are applicable.", "releasedUnderRevision": true, "shortTitle": "Epilepsy Sodium Channel Specification", "specificationSource": "", "states": [ { "current": false, "event": { "modifiedBy": "laceysmith", "name": "cspec-created", "prevState": "START", "timeStamp": "2022-08-25T17:16:49.110Z" }, "name": "Classification Rules In Prep" }, { "current": false, "event": { "modifiedBy": "laceysmith", "name": "classified-rules-submitted", "prevState": "Classification Rules In Prep", "timeStamp": "2023-02-17T19:57:33.256Z" }, "name": "Classification Rules Submitted" }, { "current": false, "event": { "modifiedBy": "strande@email.unc.edu", "name": "classified-rules-reviewed", "prevState": "Classification Rules Submitted", "timeStamp": "2022-10-22T15:34:48.630Z" }, "name": "Classification Rules In Prep" }, { "current": false, "event": { "modifiedBy": "strande@email.unc.edu", "name": "classified-rules-approved", "prevState": "Classification Rules Submitted", "timeStamp": "2023-04-22T14:47:28.452Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "laceysmith", "name": "pilot-rules-submitted", "prevState": "Pilot Rules In Prep", "timeStamp": "2024-12-19T15:30:59.917Z" }, "name": "Pilot Rules Submitted" }, { "current": false, "event": { "modifiedBy": "tsneddon", "name": "pilot-rules-reviewed", "prevState": "Pilot Rules Submitted", "timeStamp": "2024-12-19T15:28:57.154Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "tsneddon", "name": "pilot-rules-approved", "prevState": "Pilot Rules Submitted", "timeStamp": "2024-12-19T16:06:26.369Z" }, "name": "Approved For Release" }, { "current": true, "event": { "modifiedBy": "laceysmith", "name": "cspec-released", "prevState": "Approved For Release", "timeStamp": "2025-01-07T15:44:54.067Z" }, "name": "Released" }, { "current": false, "event": { "modifiedBy": "laceysmith", "name": "cspec-reopened", "prevState": "Released", "timeStamp": "2024-10-24T14:13:54.972Z" }, "name": "Pilot Rules In Prep" } ], "tagNameSpaces": [ "068" ], "title": "ClinGen Epilepsy Sodium Channel Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SCN2A Version 2.0.0", "version": "2.0.0", "versioned": true }, "entId": "GN068", "entType": "SequenceVariantInterpretation", "ld": { "CriteriaCode": [ { "created": "2024-03-19T18:41:33.659Z", "entType": "CriteriaCode", "ldhId": "1746111570", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746111570", "rev": "_jCDuuma---" }, { "created": "2024-03-19T18:41:33.659Z", "entType": "CriteriaCode", "ldhId": "1746111564", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746111564", "rev": "_jCDuuvC---" }, { "created": "2024-03-19T18:41:33.659Z", "entType": "CriteriaCode", "ldhId": "1746111563", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746111563", "rev": "_jCDuuwG---" }, { "created": "2024-03-19T18:41:33.659Z", "entType": "CriteriaCode", "ldhId": "1746111558", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746111558", "rev": "_jCDuvB----" }, { "created": "2024-03-19T18:41:33.659Z", "entType": "CriteriaCode", "ldhId": "1746111555", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746111555", "rev": "_jCDuuny---" }, { "created": "2024-03-19T18:41:33.659Z", "entType": "CriteriaCode", "ldhId": "1746111549", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746111549", "rev": "_jCDuurK---" }, { "created": "2024-03-19T18:41:33.659Z", "entType": "CriteriaCode", "ldhId": "1746111567", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746111567", "rev": "_jCDuu4----" }, { "created": "2024-03-19T18:41:33.659Z", "entType": "CriteriaCode", "ldhId": "1746111562", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746111562", "rev": "_jCDuuwu---" }, { "created": "2024-03-19T18:41:33.659Z", "entType": "CriteriaCode", "ldhId": "1746111560", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746111560", "rev": "_jCDuvA----" }, { "created": "2024-03-19T18:41:33.659Z", "entType": "CriteriaCode", "ldhId": "1746111559", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746111559", "rev": "_jCDuux6---" }, { "created": "2024-03-19T18:41:33.659Z", "entType": "CriteriaCode", "ldhId": "1746111557", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746111557", "rev": "_jCDuvCO---" }, { "created": "2024-03-19T18:41:33.659Z", "entType": "CriteriaCode", "ldhId": "1746111554", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746111554", "rev": "_jCDuupC---" }, { "created": "2024-03-19T18:41:33.659Z", "entType": "CriteriaCode", "ldhId": "1746111548", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746111548", "rev": "_jCDuur6---" }, { "created": "2024-03-19T18:41:33.659Z", "entType": "CriteriaCode", "ldhId": "1746111545", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746111545", "rev": "_jCDuuzu---" }, { "created": "2024-03-19T18:41:33.659Z", "entType": "CriteriaCode", "ldhId": "1746111544", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746111544", "rev": "_jCDuv_W---" }, { "created": "2024-03-19T18:41:33.659Z", "entType": "CriteriaCode", "ldhId": "1746111568", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746111568", "rev": "_jCDuu2y---" }, { "created": "2024-03-19T18:41:33.659Z", "entType": "CriteriaCode", "ldhId": "1746111561", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746111561", "rev": "_jCDuu46---" }, { "created": "2024-03-19T18:41:33.659Z", "entType": "CriteriaCode", "ldhId": "1746111550", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746111550", "rev": "_jCDuu5u---" }, { "created": "2024-03-19T18:41:33.659Z", "entType": "CriteriaCode", "ldhId": "1746111566", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746111566", "rev": "_jCDuu7K---" }, { "created": "2024-03-19T18:41:33.659Z", "entType": "CriteriaCode", "ldhId": "1746111565", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746111565", "rev": "_jCDuu7y---" }, { "created": "2024-03-19T18:41:33.659Z", "entType": "CriteriaCode", "ldhId": "1746111556", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746111556", "rev": "_jCDuu82---" }, { "created": "2024-03-19T18:41:33.659Z", "entType": "CriteriaCode", "ldhId": "1746111552", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746111552", "rev": "_jCDuu9y---" }, { "created": "2024-03-19T18:41:33.659Z", "entType": "CriteriaCode", "ldhId": "1746111547", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746111547", "rev": "_jCDuus2---" }, { "created": "2024-03-19T18:41:33.659Z", "entType": "CriteriaCode", "ldhId": "1746111569", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746111569", "rev": "_jCDuu1W---" }, { "created": "2024-03-19T18:41:33.659Z", "entType": "CriteriaCode", "ldhId": "1746111553", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746111553", "rev": "_jCDuupy---" }, { "created": "2024-03-19T18:41:33.659Z", "entType": "CriteriaCode", "ldhId": "1746111551", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746111551", "rev": "_jCDuuyy---" }, { "created": "2024-03-19T18:41:33.659Z", "entType": "CriteriaCode", "ldhId": "1746111546", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746111546", "rev": "_jCDuuuK---" }, { "created": "2024-03-19T18:41:33.659Z", "entType": "CriteriaCode", "ldhId": "1746111543", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746111543", "rev": "_jCDuu02---" } ], "Disease": [ { "entId": "MONDO:0100038", "entIri": "http://purl.obolibrary.org/obo/MONDO_0100038", "entType": "Disease", "ldhId": "467881646", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/467881646", "rev": "_kZ7z34O---" } ], "Gene": [ { "entId": "SCN2A", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10588", "entType": "Gene", "ldhId": "467855391", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/467855391", "rev": "_inf5CFe--O" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "643243145", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/643243145", "rev": "_jCDuuP----" } ] }, "ldFor": { "Organization": [ { "entId": "50105", "entIri": "http://clinicalgenome.org/affiliation/50105", "entType": "Organization", "ldhId": "639508904", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/639508904", "rev": "_inf5B-2--J" } ], "SequenceVariantInterpretation": [ { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" } ] }, "ldhId": "643243138", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243138", "modified": "2025-01-07T15:44:55.786Z", "modifier": "laceysmith", "rev": "_jCDuu-m---" }, { "entContent": { "approvedOn": "2025-04-28T13:24:10.476Z", "description": "SCN3A", "namespace": "GN069", "releaseNotes": "Making PVS1 flowchart available.", "releasedUnderRevision": true, "shortTitle": "Epilepsy Sodium Channel Specification", "specificationSource": "", "states": [ { "current": false, "event": { "modifiedBy": "laceysmith", "name": "cspec-created", "prevState": "START", "timeStamp": "2022-08-30T15:36:15.462Z" }, "name": "Classification Rules In Prep" }, { "current": false, "event": { "modifiedBy": "laceysmith", "name": "classified-rules-submitted", "prevState": "Classification Rules In Prep", "timeStamp": "2023-02-17T19:58:27.926Z" }, "name": "Classification Rules Submitted" }, { "current": false, "event": { "modifiedBy": "strande@email.unc.edu", "name": "classified-rules-reviewed", "prevState": "Classification Rules Submitted", "timeStamp": "2022-10-22T15:35:11.910Z" }, "name": "Classification Rules In Prep" }, { "current": false, "event": { "modifiedBy": "strande@email.unc.edu", "name": "classified-rules-approved", "prevState": "Classification Rules Submitted", "timeStamp": "2023-04-22T14:47:31.278Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "laceysmith", "name": "pilot-rules-submitted", "prevState": "Pilot Rules In Prep", "timeStamp": "2025-04-24T19:29:27.410Z" }, "name": "Pilot Rules Submitted" }, { "current": false, "event": { "modifiedBy": "tsneddon", "name": "pilot-rules-reviewed", "prevState": "Pilot Rules Submitted", "timeStamp": "2024-12-19T15:29:36.672Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "dazzarit", "name": "pilot-rules-approved", "prevState": "Pilot Rules Submitted", "timeStamp": "2025-04-24T20:36:11.592Z" }, "name": "Approved For Release" }, { "current": true, "event": { "modifiedBy": "laceysmith", "name": "cspec-released", "prevState": "Approved For Release", "timeStamp": "2025-04-28T13:24:10.476Z" }, "name": "Released" }, { "current": false, "event": { "modifiedBy": "laceysmith", "name": "cspec-reopened", "prevState": "Released", "timeStamp": "2025-01-07T15:51:56.126Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "laceysmith", "name": "pilot-rules-withdrawn", "prevState": "Pilot Rules Submitted", "timeStamp": "2025-04-24T19:29:01.436Z" }, "name": "Pilot Rules In Prep" } ], "tagNameSpaces": [ "069" ], "title": "ClinGen Epilepsy Sodium Channel Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SCN3A Version 2.1.0", "version": "2.1.0", "versioned": true }, "entId": "GN069", "entType": "SequenceVariantInterpretation", "ld": { "CriteriaCode": [ { "created": "2024-03-19T18:42:37.986Z", "entType": "CriteriaCode", "ldhId": "1746112475", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746112475", "rev": "_jlwPwWe---" }, { "created": "2024-03-19T18:42:37.986Z", "entType": "CriteriaCode", "ldhId": "1746112472", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746112472", "rev": "_jlwPwP2---" }, { "created": "2024-03-19T18:42:37.986Z", "entType": "CriteriaCode", "ldhId": "1746112470", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746112470", "rev": "_jlwPwNC---" }, { "created": "2024-03-19T18:42:37.986Z", "entType": "CriteriaCode", "ldhId": "1746112466", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746112466", "rev": "_jlwPwTK---" }, { "created": "2024-03-19T18:42:37.986Z", "entType": "CriteriaCode", "ldhId": "1746112464", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746112464", "rev": "_jlwPwU----" }, { "created": "2024-03-19T18:42:37.986Z", "entType": "CriteriaCode", "ldhId": "1746112455", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746112455", "rev": "_jlwPwVW---" }, { "created": "2024-03-19T18:42:37.986Z", "entType": "CriteriaCode", "ldhId": "1746112454", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746112454", "rev": "_jlwPwR----" }, { "created": "2024-03-19T18:42:37.986Z", "entType": "CriteriaCode", "ldhId": "1746112478", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746112478", "rev": "_jlwPwRu---" }, { "created": "2024-03-19T18:42:37.986Z", "entType": "CriteriaCode", "ldhId": "1746112476", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746112476", "rev": "_jlwPwOu---" }, { "created": "2024-03-19T18:42:37.986Z", "entType": "CriteriaCode", "ldhId": "1746112471", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746112471", "rev": "_jlwPwSK---" }, { "created": "2024-03-19T18:42:37.986Z", "entType": "CriteriaCode", "ldhId": "1746112469", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746112469", "rev": "_jlwPwSu---" }, { "created": "2024-03-19T18:42:37.986Z", "entType": "CriteriaCode", "ldhId": "1746112467", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746112467", "rev": "_jlwPwNi---" }, { "created": "2024-03-19T18:42:37.986Z", "entType": "CriteriaCode", "ldhId": "1746112465", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746112465", "rev": "_jlwPwTm---" }, { "created": "2024-03-19T18:42:37.986Z", "entType": "CriteriaCode", "ldhId": "1746112457", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746112457", "rev": "_jlwPwVK---" }, { "created": "2024-03-19T18:42:37.986Z", "entType": "CriteriaCode", "ldhId": "1746112460", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746112460", "rev": "_jlwPwUu---" }, { "created": "2024-03-19T18:42:37.986Z", "entType": "CriteriaCode", "ldhId": "1746112459", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746112459", "rev": "_jlwPwXK---" }, { "created": "2024-03-19T18:42:37.986Z", "entType": "CriteriaCode", "ldhId": "1746112456", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746112456", "rev": "_jlwPwOe---" }, { "created": "2024-03-19T18:42:37.986Z", "entType": "CriteriaCode", "ldhId": "1746112453", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746112453", "rev": "_jlwPwVy---" }, { "created": "2024-03-19T18:42:37.986Z", "entType": "CriteriaCode", "ldhId": "1746112473", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746112473", "rev": "_jlwPwMi---" }, { "created": "2024-03-19T18:42:37.986Z", "entType": "CriteriaCode", "ldhId": "1746112468", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746112468", "rev": "_jlwPwQS---" }, { "created": "2024-03-19T18:42:37.986Z", "entType": "CriteriaCode", "ldhId": "1746112462", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746112462", "rev": "_jlwPwUW---" }, { "created": "2024-03-19T18:42:37.986Z", "entType": "CriteriaCode", "ldhId": "1746112461", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746112461", "rev": "_jlwPwW2---" }, { "created": "2024-03-19T18:42:37.986Z", "entType": "CriteriaCode", "ldhId": "1746112452", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746112452", "rev": "_jlwPwPi---" }, { "created": "2024-03-19T18:42:37.986Z", "entType": "CriteriaCode", "ldhId": "1746112451", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746112451", "rev": "_jlwPwXe---" }, { "created": "2024-03-19T18:42:37.986Z", "entType": "CriteriaCode", "ldhId": "1746112477", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746112477", "rev": "_jlwPwWG---" }, { "created": "2024-03-19T18:42:37.986Z", "entType": "CriteriaCode", "ldhId": "1746112474", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746112474", "rev": "_jlwPwMK---" }, { "created": "2024-03-19T18:42:37.986Z", "entType": "CriteriaCode", "ldhId": "1746112463", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746112463", "rev": "_jlwPwN6---" }, { "created": "2024-03-19T18:42:37.986Z", "entType": "CriteriaCode", "ldhId": "1746112458", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746112458", "rev": "_jlwPwPG---" } ], "Disease": [ { "entId": "MONDO:0100062", "entIri": "http://purl.obolibrary.org/obo/MONDO_0100062", "entType": "Disease", "ldhId": "467881472", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/467881472", "rev": "_kZ7z39S---" } ], "Gene": [ { "entId": "SCN3A", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10590", "entType": "Gene", "ldhId": "467855393", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/467855393", "rev": "_inf5CFO--W" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "643243146", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/643243146", "rev": "_jlwPwFa---" } ] }, "ldFor": { "Organization": [ { "entId": "50105", "entIri": "http://clinicalgenome.org/affiliation/50105", "entType": "Organization", "ldhId": "639508904", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/639508904", "rev": "_inf5B-2--J" } ], "SequenceVariantInterpretation": [ { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" } ] }, "ldhId": "643243139", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243139", "modified": "2025-04-28T13:24:10.886Z", "modifier": "laceysmith", "rev": "_jlwPwAK---" }, { "entContent": { "approvedOn": "2025-01-07T15:49:01.714Z", "description": "SCN8A", "namespace": "GN070", "releaseNotes": "Release contains updates to transcript information and exon numbering. We have also revised the PM1 table, which has altered some of the regions that are applicable from the previous version.", "releasedUnderRevision": true, "shortTitle": "Epilepsy Sodium Channel Specification", "specificationSource": "", "states": [ { "current": false, "event": { "modifiedBy": "laceysmith", "name": "cspec-created", "prevState": "START", "timeStamp": "2022-08-30T16:02:50.886Z" }, "name": "Classification Rules In Prep" }, { "current": false, "event": { "modifiedBy": "laceysmith", "name": "classified-rules-submitted", "prevState": "Classification Rules In Prep", "timeStamp": "2023-02-17T19:59:43.168Z" }, "name": "Classification Rules Submitted" }, { "current": false, "event": { "modifiedBy": "strande@email.unc.edu", "name": "classified-rules-reviewed", "prevState": "Classification Rules Submitted", "timeStamp": "2022-10-22T15:35:32.036Z" }, "name": "Classification Rules In Prep" }, { "current": false, "event": { "modifiedBy": "strande@email.unc.edu", "name": "classified-rules-approved", "prevState": "Classification Rules Submitted", "timeStamp": "2023-04-22T14:32:41.896Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "laceysmith", "name": "pilot-rules-submitted", "prevState": "Pilot Rules In Prep", "timeStamp": "2024-12-19T15:33:09.882Z" }, "name": "Pilot Rules Submitted" }, { "current": false, "event": { "modifiedBy": "tsneddon", "name": "pilot-rules-reviewed", "prevState": "Pilot Rules Submitted", "timeStamp": "2024-12-19T15:30:12.797Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "tsneddon", "name": "pilot-rules-approved", "prevState": "Pilot Rules Submitted", "timeStamp": "2024-12-19T16:07:21.057Z" }, "name": "Approved For Release" }, { "current": true, "event": { "modifiedBy": "laceysmith", "name": "cspec-released", "prevState": "Approved For Release", "timeStamp": "2025-01-07T15:49:01.714Z" }, "name": "Released" }, { "current": false, "event": { "modifiedBy": "laceysmith", "name": "cspec-reopened", "prevState": "Released", "timeStamp": "2024-10-29T12:33:04.773Z" }, "name": "Pilot Rules In Prep" } ], "tagNameSpaces": [ "070" ], "title": "ClinGen Epilepsy Sodium Channel Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SCN8A Version 2.0.0", "version": "2.0.0", "versioned": true }, "entId": "GN070", "entType": "SequenceVariantInterpretation", "ld": { "CriteriaCode": [ { "created": "2024-03-19T18:43:30.166Z", "entType": "CriteriaCode", "ldhId": "1746113415", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746113415", "rev": "_jCDygwa---" }, { "created": "2024-03-19T18:43:30.166Z", "entType": "CriteriaCode", "ldhId": "1746113409", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746113409", "rev": "_jCDygx----" }, { "created": "2024-03-19T18:43:30.166Z", "entType": "CriteriaCode", "ldhId": "1746113402", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746113402", "rev": "_jCDygsS---" }, { "created": "2024-03-19T18:43:30.166Z", "entType": "CriteriaCode", "ldhId": "1746113399", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746113399", "rev": "_jCDygtW---" }, { "created": "2024-03-19T18:43:30.166Z", "entType": "CriteriaCode", "ldhId": "1746113393", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746113393", "rev": "_jCDyg2----" }, { "created": "2024-03-19T18:43:30.166Z", "entType": "CriteriaCode", "ldhId": "1746113410", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746113410", "rev": "_jCDyghm---" }, { "created": "2024-03-19T18:43:30.166Z", "entType": "CriteriaCode", "ldhId": "1746113406", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746113406", "rev": "_jCDyg4q---" }, { "created": "2024-03-19T18:43:30.166Z", "entType": "CriteriaCode", "ldhId": "1746113405", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746113405", "rev": "_jCDygk----" }, { "created": "2024-03-19T18:43:30.166Z", "entType": "CriteriaCode", "ldhId": "1746113398", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746113398", "rev": "_jCDyguC---" }, { "created": "2024-03-19T18:43:30.166Z", "entType": "CriteriaCode", "ldhId": "1746113396", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746113396", "rev": "_jCDygoS---" }, { "created": "2024-03-19T18:43:30.166Z", "entType": "CriteriaCode", "ldhId": "1746113392", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746113392", "rev": "_jCDygqG---" }, { "created": "2024-03-19T18:43:30.166Z", "entType": "CriteriaCode", "ldhId": "1746113390", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746113390", "rev": "_jCDyg26---" }, { "created": "2024-03-19T18:43:30.166Z", "entType": "CriteriaCode", "ldhId": "1746113389", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746113389", "rev": "_jCDygl6---" }, { "created": "2024-03-19T18:43:30.166Z", "entType": "CriteriaCode", "ldhId": "1746113408", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746113408", "rev": "_jCDygr----" }, { "created": "2024-03-19T18:43:30.166Z", "entType": "CriteriaCode", "ldhId": "1746113407", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746113407", "rev": "_jCDygii---" }, { "created": "2024-03-19T18:43:30.166Z", "entType": "CriteriaCode", "ldhId": "1746113391", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746113391", "rev": "_jCDygk6---" }, { "created": "2024-03-19T18:43:30.166Z", "entType": "CriteriaCode", "ldhId": "1746113414", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746113414", "rev": "_jCDygfG---" }, { "created": "2024-03-19T18:43:30.166Z", "entType": "CriteriaCode", "ldhId": "1746113412", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746113412", "rev": "_jCDygnO---" }, { "created": "2024-03-19T18:43:30.166Z", "entType": "CriteriaCode", "ldhId": "1746113411", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746113411", "rev": "_jCDyg3q---" }, { "created": "2024-03-19T18:43:30.166Z", "entType": "CriteriaCode", "ldhId": "1746113403", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746113403", "rev": "_jCDygzC---" }, { "created": "2024-03-19T18:43:30.166Z", "entType": "CriteriaCode", "ldhId": "1746113400", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746113400", "rev": "_jCDyg56---" }, { "created": "2024-03-19T18:43:30.166Z", "entType": "CriteriaCode", "ldhId": "1746113397", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746113397", "rev": "_jCDyg6i---" }, { "created": "2024-03-19T18:43:30.166Z", "entType": "CriteriaCode", "ldhId": "1746113394", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746113394", "rev": "_jCDyg0u---" }, { "created": "2024-03-19T18:43:30.166Z", "entType": "CriteriaCode", "ldhId": "1746113413", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746113413", "rev": "_jCDyggu---" }, { "created": "2024-03-19T18:43:30.166Z", "entType": "CriteriaCode", "ldhId": "1746113404", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746113404", "rev": "_jCDygxy---" }, { "created": "2024-03-19T18:43:30.166Z", "entType": "CriteriaCode", "ldhId": "1746113401", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746113401", "rev": "_jCDyg0G---" }, { "created": "2024-03-19T18:43:30.166Z", "entType": "CriteriaCode", "ldhId": "1746113395", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746113395", "rev": "_jCDygpW---" }, { "created": "2024-03-19T18:43:30.166Z", "entType": "CriteriaCode", "ldhId": "1746113388", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746113388", "rev": "_jCDygvW---" } ], "Disease": [ { "entId": "MONDO:0100038", "entIri": "http://purl.obolibrary.org/obo/MONDO_0100038", "entType": "Disease", "ldhId": "467881646", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/467881646", "rev": "_kZ7z34O---" } ], "Gene": [ { "entId": "SCN8A", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10596", "entType": "Gene", "ldhId": "467855399", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/467855399", "rev": "_inf5CFm--N" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "643243147", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/643243147", "rev": "_jCDygGi---" } ] }, "ldFor": { "Organization": [ { "entId": "50105", "entIri": "http://clinicalgenome.org/affiliation/50105", "entType": "Organization", "ldhId": "639508904", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/639508904", "rev": "_inf5B-2--J" } ], "SequenceVariantInterpretation": [ { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" } ] }, "ldhId": "643243140", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243140", "modified": "2025-01-07T15:49:03.412Z", "modifier": "laceysmith", "rev": "_jCDyfzS---" }, { "entContent": { "approvedOn": "2026-01-20T17:00:57.493Z", "description": "Hemophilia A", "namespace": "GN071", "releaseNotes": "Edits post SVI Review\n\nPVS1 - Updated to include RNA recommendations based on Walker, et al paper.\n\nPP3/BP4/BP7 - Updated SpliceAI cut off based on Walker, et al paper.\n\nPS4 - changed requirement that only 3 hemizygotes could be present in gnomAD in order to apply code. This was changed as a result of the increased number of individuals in gnomAD v4.1. Now using a ratio to avoid needing to update regularly in the future.\n\nBS2- fixed typo\n\nPS1 - updated to include Walker, et al splicing recommendations\n\nPS3 - decreased weight to supporting for all assays", "shortTitle": "Coagulation Factor Deficiency Specification", "specificationSource": "", "states": [ { "current": false, "event": { "modifiedBy": "leekristy", "name": "cspec-created", "prevState": "START", "timeStamp": "2022-08-30T16:51:25.460Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "leekristy", "name": "pilot-rules-submitted", "prevState": "Pilot Rules In Prep", "timeStamp": "2025-12-09T19:48:45.634Z" }, "name": "Pilot Rules Submitted" }, { "current": false, "event": { "modifiedBy": "leekristy", "name": "pilot-rules-withdrawn", "prevState": "Pilot Rules Submitted", "timeStamp": "2025-12-09T19:48:22.476Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "strande@email.unc.edu", "name": "pilot-rules-reviewed", "prevState": "Pilot Rules Submitted", "timeStamp": "2025-10-02T15:39:48.918Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "sharriso", "name": "pilot-rules-approved", "prevState": "Pilot Rules Submitted", "timeStamp": "2026-01-13T21:29:43.535Z" }, "name": "Approved For Release" }, { "current": true, "event": { "modifiedBy": "leekristy", "name": "cspec-released", "prevState": "Approved For Release", "timeStamp": "2026-01-20T17:00:57.493Z" }, "name": "Released" }, { "current": false, "event": { "modifiedBy": "leekristy", "name": "cspec-reopened", "prevState": "Released", "timeStamp": "2024-09-06T11:49:00.799Z" }, "name": "Pilot Rules In Prep" } ], "tagNameSpaces": [ "071" ], "title": "ClinGen Coagulation Factor Deficiency Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for F8 Version 2.0.0", "type": "Tavtigian et.al., 2020 - Bayesian adaptation of Richards et.al., 2015", "version": "2.0.0", "versioned": true }, "entId": "GN071", "entType": "SequenceVariantInterpretation", "ld": { "CriteriaCode": [ { "created": "2023-10-05T13:24:38.227Z", "entType": "CriteriaCode", "ldhId": "1620362903", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1620362903", "rev": "_k7vYLju---" }, { "created": "2023-10-05T13:24:38.227Z", "entType": "CriteriaCode", "ldhId": "1620362901", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1620362901", "rev": "_k7vYLei---" }, { "created": "2023-10-05T13:24:38.227Z", "entType": "CriteriaCode", "ldhId": "1620362889", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1620362889", "rev": "_k7vYLfe---" }, { "created": "2023-10-05T13:24:38.227Z", "entType": "CriteriaCode", "ldhId": "1620362884", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1620362884", "rev": "_k7vYLb2---" }, { "created": "2023-10-05T13:24:38.227Z", "entType": "CriteriaCode", "ldhId": "1620362908", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1620362908", "rev": "_k7vYLa2---" }, { "created": "2023-10-05T13:24:38.227Z", "entType": "CriteriaCode", "ldhId": "1620362907", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1620362907", "rev": "_k7vYLdG---" }, { "created": "2023-10-05T13:24:38.227Z", "entType": "CriteriaCode", "ldhId": "1620362887", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1620362887", "rev": "_k7vYLi----" }, { "created": "2023-10-05T13:24:38.227Z", "entType": "CriteriaCode", "ldhId": "1620362905", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1620362905", "rev": "_k7vYLlC---" }, { "created": "2023-10-05T13:24:38.227Z", "entType": "CriteriaCode", "ldhId": "1620362904", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1620362904", "rev": "_k7vYLeC---" }, { "created": "2023-10-05T13:24:38.227Z", "entType": "CriteriaCode", "ldhId": "1620362902", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1620362902", "rev": "_k7vYLf6---" }, { "created": "2023-10-05T13:24:38.227Z", "entType": "CriteriaCode", "ldhId": "1620362895", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1620362895", "rev": "_k7vYLbW---" }, { "created": "2023-10-05T13:24:38.227Z", "entType": "CriteriaCode", "ldhId": "1620362894", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1620362894", "rev": "_k7vYLgq---" }, { "created": "2023-10-05T13:24:38.227Z", "entType": "CriteriaCode", "ldhId": "1620362893", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1620362893", "rev": "_k7vYLn----" }, { "created": "2023-10-05T13:24:38.227Z", "entType": "CriteriaCode", "ldhId": "1620362892", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1620362892", "rev": "_k7vYLhK---" }, { "created": "2023-10-05T13:24:38.227Z", "entType": "CriteriaCode", "ldhId": "1620362886", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1620362886", "rev": "_k7vYLia---" }, { "created": "2023-10-05T13:24:38.227Z", "entType": "CriteriaCode", "ldhId": "1620362885", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1620362885", "rev": "_k7vYLj----" }, { "created": "2023-10-05T13:24:38.227Z", "entType": "CriteriaCode", "ldhId": "1620362883", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1620362883", "rev": "_k7vYLkq---" }, { "created": "2023-10-05T13:24:38.227Z", "entType": "CriteriaCode", "ldhId": "1620362906", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1620362906", "rev": "_k7vYLdm---" }, { "created": "2023-10-05T13:24:38.227Z", "entType": "CriteriaCode", "ldhId": "1620362900", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1620362900", "rev": "_k7vYLgS---" }, { "created": "2023-10-05T13:24:38.227Z", "entType": "CriteriaCode", "ldhId": "1620362899", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1620362899", "rev": "_k7vYLlm---" }, { "created": "2023-10-05T13:24:38.227Z", "entType": "CriteriaCode", "ldhId": "1620362898", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1620362898", "rev": "_k7vYLmG---" }, { "created": "2023-10-05T13:24:38.227Z", "entType": "CriteriaCode", "ldhId": "1620362897", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1620362897", "rev": "_k7vYLmm---" }, { "created": "2023-10-05T13:24:38.227Z", "entType": "CriteriaCode", "ldhId": "1620362891", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1620362891", "rev": "_k7vYLhi---" }, { "created": "2023-10-05T13:24:38.227Z", "entType": "CriteriaCode", "ldhId": "1620362888", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1620362888", "rev": "_k7vYLkK---" }, { "created": "2023-10-05T13:24:38.227Z", "entType": "CriteriaCode", "ldhId": "1620362896", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1620362896", "rev": "_k7vYLfC---" }, { "created": "2023-10-05T13:24:38.227Z", "entType": "CriteriaCode", "ldhId": "1620362890", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1620362890", "rev": "_k7vYLne---" }, { "created": "2023-10-05T13:24:38.227Z", "entType": "CriteriaCode", "ldhId": "1620362882", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1620362882", "rev": "_k7vYLcS---" }, { "created": "2023-10-05T13:24:38.227Z", "entType": "CriteriaCode", "ldhId": "1620362881", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1620362881", "rev": "_k7vYLcu---" } ], "Disease": [ { "entId": "MONDO:0010602", "entIri": "http://purl.obolibrary.org/obo/MONDO_0010602", "entType": "Disease", "ldhId": "467893775", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/467893775", "rev": "_kZ7wwES---" } ], "Gene": [ { "entId": "F8", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3546", "entType": "Gene", "ldhId": "467825573", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/467825573", "rev": "_inf5BMa--Z" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "643243148", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/643243148", "rev": "_k7vYLUK---" } ] }, "ldFor": { "Organization": [ { "entId": "50041", "entIri": "http://clinicalgenome.org/affiliation/50041", "entType": "Organization", "ldhId": "639508881", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/639508881", "rev": "_inf5B_G--K" } ], "SequenceVariantInterpretation": [ { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" } ] }, "ldhId": "643243141", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243141", "modified": "2026-01-20T17:00:57.900Z", "modifier": "leekristy", "rev": "_k7vYLM----" }, { "entContent": { "approvedOn": "2022-08-25T22:49:46.752Z", "description": "", "namespace": "GN072", "releaseNotes": "", "shortTitle": "GRIN Disorders Specification", "specificationSource": "", "states": [ { "current": false, "event": { "name": "cspec-created", "prevState": "START", "timeStamp": "2022-09-07T19:39:10.992Z" }, "name": "Classification Rules In Prep" }, { "current": false, "event": { "name": "classified-rules-submitted", "prevState": "Classification Rules In Prep", "timeStamp": "2025-07-30T20:15:48.274Z" }, "name": "Classification Rules Submitted" }, { "current": false, "event": { "name": "classified-rules-reviewed", "prevState": "Classification Rules Submitted", "timeStamp": "2025-01-10T21:50:20.057Z" }, "name": "Classification Rules In Prep" }, { "current": false, "event": { "name": "classified-rules-withdrawn", "prevState": "Classification Rules Submitted", "timeStamp": "2024-10-21T18:35:17.538Z" }, "name": "Classification Rules In Prep" }, { "current": true, "event": { "name": "classified-rules-approved", "prevState": "Classification Rules Submitted", "timeStamp": "2025-08-22T17:47:23.482Z" }, "name": "Pilot Rules In Prep" } ], "tagNameSpaces": [ "072" ], "title": "ClinGen GRIN Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for GRIN1 Version 1.0.0", "version": "1.0.0", "versioned": true }, "entId": "GN072", "entType": "SequenceVariantInterpretation", "ld": { "Disease": [ { "entId": "MONDO:0100038", "entIri": "http://purl.obolibrary.org/obo/MONDO_0100038", "entType": "Disease", "ldhId": "467881646", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/467881646", "rev": "_kZ7z34O---" } ], "Gene": [ { "entId": "GRIN1", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4584", "entType": "Gene", "ldhId": "467828347", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/467828347", "rev": "_inf5BNS--U" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "643243149", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/643243149", "rev": "_inf5BHW--a" } ] }, "ldFor": { "Organization": [ { "entId": "50078", "entIri": "http://clinicalgenome.org/affiliation/50078", "entType": "Organization", "ldhId": "639508892", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/639508892", "rev": "_inf5B_---G" } ], "SequenceVariantInterpretation": [ { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" } ] }, "ldhId": "643243142", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243142", "modified": "2025-08-22T17:47:23.739Z", "modifier": "sharriso", "rev": "_kLJiasa---" }, { "entContent": { "description": "", "namespace": "GN073", "releaseNotes": "", "shortTitle": "GRIN Disorders Specification", "specificationSource": "", "states": [ { "current": false, "event": { "name": "cspec-created", "prevState": "START", "timeStamp": "2022-09-08T13:45:57.209Z" }, "name": "Classification Rules In Prep" }, { "current": false, "event": { "name": "classified-rules-submitted", "prevState": "Classification Rules In Prep", "timeStamp": "2025-07-30T20:17:57.216Z" }, "name": "Classification Rules Submitted" }, { "current": false, "event": { "name": "classified-rules-reviewed", "prevState": "Classification Rules Submitted", "timeStamp": "2025-01-10T21:50:32.499Z" }, "name": "Classification Rules In Prep" }, { "current": false, "event": { "name": "classified-rules-withdrawn", "prevState": "Classification Rules Submitted", "timeStamp": "2024-10-21T18:39:12.158Z" }, "name": "Classification Rules In Prep" }, { "current": true, "event": { "name": "classified-rules-approved", "prevState": "Classification Rules Submitted", "timeStamp": "2025-08-22T17:47:54.793Z" }, "name": "Pilot Rules In Prep" } ], "tagNameSpaces": [ "073" ], "title": "ClinGen GRIN Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for GRIN2A Version 1.0.0", "version": "1.0.0", "versioned": true }, "entId": "GN073", "entType": "SequenceVariantInterpretation", "ld": { "Disease": [ { "entId": "MONDO:0100038", "entIri": "http://purl.obolibrary.org/obo/MONDO_0100038", "entType": "Disease", "ldhId": "467881646", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/467881646", "rev": "_kZ7z34O---" }, { "entId": "MONDO:0017325", "entIri": "http://purl.obolibrary.org/obo/MONDO_0017325", "entType": "Disease", "ldhId": "467897404", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/467897404", "rev": "_kZ7yJnK---" } ], "Gene": [ { "entId": "GRIN2A", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4585", "entType": "Gene", "ldhId": "467828348", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/467828348", "rev": "_inf5BNW--y" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "643243150", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/643243150", "rev": "_inf5BHO--T" } ] }, "ldFor": { "Organization": [ { "entId": "50078", "entIri": "http://clinicalgenome.org/affiliation/50078", "entType": "Organization", "ldhId": "639508892", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/639508892", "rev": "_inf5B_---G" } ], "SequenceVariantInterpretation": [ { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" } ] }, "ldhId": "643243143", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243143", "modified": "2025-08-22T17:47:54.949Z", "modifier": "sharriso", "rev": "_kLJi5Ky---" }, { "entContent": { "description": "", "namespace": "GN074", "releaseNotes": "", "shortTitle": "GRIN Disorders Specification", "specificationSource": "", "states": [ { "current": false, "event": { "name": "cspec-created", "prevState": "START", "timeStamp": "2022-09-08T14:02:11.437Z" }, "name": "Classification Rules In Prep" }, { "current": false, "event": { "name": "classified-rules-submitted", "prevState": "Classification Rules In Prep", "timeStamp": "2025-07-30T20:18:54.227Z" }, "name": "Classification Rules Submitted" }, { "current": false, "event": { "name": "classified-rules-reviewed", "prevState": "Classification Rules Submitted", "timeStamp": "2025-01-10T21:50:37.219Z" }, "name": "Classification Rules In Prep" }, { "current": false, "event": { "name": "classified-rules-withdrawn", "prevState": "Classification Rules Submitted", "timeStamp": "2024-10-21T18:42:43.925Z" }, "name": "Classification Rules In Prep" }, { "current": true, "event": { "name": "classified-rules-approved", "prevState": "Classification Rules Submitted", "timeStamp": "2025-08-22T17:48:40.479Z" }, "name": "Pilot Rules In Prep" } ], "tagNameSpaces": [ "074" ], "title": "ClinGen GRIN Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for GRIN2B Version 1.0.0", "version": "1.0.0", "versioned": true }, "entId": "GN074", "entType": "SequenceVariantInterpretation", "ld": { "Disease": [ { "entId": "MONDO:0100038", "entIri": "http://purl.obolibrary.org/obo/MONDO_0100038", "entType": "Disease", "ldhId": "467881646", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/467881646", "rev": "_kZ7z34O---" }, { "entId": "MONDO:0035122", "entIri": "http://purl.obolibrary.org/obo/MONDO_0035122", "entType": "Disease", "ldhId": "467888664", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/467888664", "rev": "_kZ7zlKm---" } ], "Gene": [ { "entId": "GRIN2B", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4586", "entType": "Gene", "ldhId": "467828349", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/467828349", "rev": "_inf5BNS--W" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "643243151", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/643243151", "rev": "_inf5BHO--W" } ] }, "ldFor": { "Organization": [ { "entId": "50078", "entIri": "http://clinicalgenome.org/affiliation/50078", "entType": "Organization", "ldhId": "639508892", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/639508892", "rev": "_inf5B_---G" } ], "SequenceVariantInterpretation": [ { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" } ] }, "ldhId": "643243144", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243144", "modified": "2025-08-22T17:48:40.720Z", "modifier": "sharriso", "rev": "_kLJjl3e---" }, { "entContent": { "description": "", "namespace": "GN075", "releaseNotes": "", "shortTitle": "GRIN Disorders Specification", "specificationSource": "", "states": [ { "current": false, "event": { "name": "cspec-created", "prevState": "START", "timeStamp": "2022-09-08T15:02:00.319Z" }, "name": "Classification Rules In Prep" }, { "current": false, "event": { "name": "classified-rules-submitted", "prevState": "Classification Rules In Prep", "timeStamp": "2025-07-30T20:19:30.777Z" }, "name": "Classification Rules Submitted" }, { "current": false, "event": { "name": "classified-rules-reviewed", "prevState": "Classification Rules Submitted", "timeStamp": "2025-01-10T21:50:45.184Z" }, "name": "Classification Rules In Prep" }, { "current": false, "event": { "name": "classified-rules-withdrawn", "prevState": "Classification Rules Submitted", "timeStamp": "2024-10-21T18:44:38.049Z" }, "name": "Classification Rules In Prep" }, { "current": true, "event": { "name": "classified-rules-approved", "prevState": "Classification Rules Submitted", "timeStamp": "2025-08-22T17:49:24.982Z" }, "name": "Pilot Rules In Prep" } ], "tagNameSpaces": [ "075" ], "title": "ClinGen GRIN Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for GRIN2D Version 1.0.0", "version": "1.0.0", "versioned": true }, "entId": "GN075", "entType": "SequenceVariantInterpretation", "ld": { "Disease": [ { "entId": "MONDO:0100038", "entIri": "http://purl.obolibrary.org/obo/MONDO_0100038", "entType": "Disease", "ldhId": "467881646", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/467881646", "rev": "_kZ7z34O---" } ], "Gene": [ { "entId": "GRIN2D", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4588", "entType": "Gene", "ldhId": "467828351", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/467828351", "rev": "_inf5BNS--b" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "643243152", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/643243152", "rev": "_inf5BHa--j" } ] }, "ldFor": { "Organization": [ { "entId": "50078", "entIri": "http://clinicalgenome.org/affiliation/50078", "entType": "Organization", "ldhId": "639508892", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/639508892", "rev": "_inf5B_---G" } ], "SequenceVariantInterpretation": [ { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" } ] }, "ldhId": "643243145", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243145", "modified": "2025-08-22T17:49:25.129Z", "modifier": "sharriso", "rev": "_kLJkRP----" }, { "entContent": { "approvedOn": "2025-01-07T15:50:02.947Z", "description": "SCN1B", "namespace": "GN076", "releaseNotes": "Release contains updates to transcript information and exon numbering.", "releasedUnderRevision": true, "shortTitle": "Epilepsy Sodium Channel Specification", "specificationSource": "", "states": [ { "current": false, "event": { "modifiedBy": "laceysmith", "name": "cspec-created", "prevState": "START", "timeStamp": "2022-09-12T19:49:49.841Z" }, "name": "Classification Rules In Prep" }, { "current": false, "event": { "modifiedBy": "laceysmith", "name": "classified-rules-submitted", "prevState": "Classification Rules In Prep", "timeStamp": "2023-02-17T20:00:33.365Z" }, "name": "Classification Rules Submitted" }, { "current": false, "event": { "modifiedBy": "strande@email.unc.edu", "name": "classified-rules-reviewed", "prevState": "Classification Rules Submitted", "timeStamp": "2022-10-22T15:35:43.650Z" }, "name": "Classification Rules In Prep" }, { "current": false, "event": { "modifiedBy": "strande@email.unc.edu", "name": "classified-rules-approved", "prevState": "Classification Rules Submitted", "timeStamp": "2023-04-22T14:47:34.421Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "laceysmith", "name": "pilot-rules-submitted", "prevState": "Pilot Rules In Prep", "timeStamp": "2024-12-19T15:34:07.339Z" }, "name": "Pilot Rules Submitted" }, { "current": false, "event": { "modifiedBy": "tsneddon", "name": "pilot-rules-reviewed", "prevState": "Pilot Rules Submitted", "timeStamp": "2024-12-19T15:28:15.950Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "tsneddon", "name": "pilot-rules-approved", "prevState": "Pilot Rules Submitted", "timeStamp": "2024-12-19T16:07:05.702Z" }, "name": "Approved For Release" }, { "current": true, "event": { "modifiedBy": "laceysmith", "name": "cspec-released", "prevState": "Approved For Release", "timeStamp": "2025-01-07T15:50:02.947Z" }, "name": "Released" }, { "current": false, "event": { "modifiedBy": "laceysmith", "name": "cspec-reopened", "prevState": "Released", "timeStamp": "2024-10-24T14:07:50.168Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "laceysmith", "name": "pilot-rules-withdrawn", "prevState": "Pilot Rules Submitted", "timeStamp": "2024-10-24T14:25:28.490Z" }, "name": "Pilot Rules In Prep" } ], "tagNameSpaces": [ "076" ], "title": "ClinGen Epilepsy Sodium Channel Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SCN1B Version 2.0.0", "version": "2.0.0", "versioned": true }, "entId": "GN076", "entType": "SequenceVariantInterpretation", "ld": { "CriteriaCode": [ { "created": "2024-03-19T18:38:48.195Z", "entType": "CriteriaCode", "ldhId": "1746109688", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746109688", "rev": "_jCDzcbe---" }, { "created": "2024-03-19T18:38:48.195Z", "entType": "CriteriaCode", "ldhId": "1746109687", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746109687", "rev": "_jCDzcju---" }, { "created": "2024-03-19T18:38:48.195Z", "entType": "CriteriaCode", "ldhId": "1746109682", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746109682", "rev": "_jCDzck6---" }, { "created": "2024-03-19T18:38:48.195Z", "entType": "CriteriaCode", "ldhId": "1746109679", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746109679", "rev": "_jCDzcYC---" }, { "created": "2024-03-19T18:38:48.195Z", "entType": "CriteriaCode", "ldhId": "1746109668", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746109668", "rev": "_jCDzcoG---" }, { "created": "2024-03-19T18:38:48.195Z", "entType": "CriteriaCode", "ldhId": "1746109667", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746109667", "rev": "_jCDzcZC---" }, { "created": "2024-03-19T18:38:48.195Z", "entType": "CriteriaCode", "ldhId": "1746109680", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746109680", "rev": "_jCDzcdq---" }, { "created": "2024-03-19T18:38:48.195Z", "entType": "CriteriaCode", "ldhId": "1746109676", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746109676", "rev": "_jCDzcm6---" }, { "created": "2024-03-19T18:38:48.195Z", "entType": "CriteriaCode", "ldhId": "1746109666", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746109666", "rev": "_jCDzcvm---" }, { "created": "2024-03-19T18:38:48.195Z", "entType": "CriteriaCode", "ldhId": "1746109662", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746109662", "rev": "_jCDzciy---" }, { "created": "2024-03-19T18:38:48.195Z", "entType": "CriteriaCode", "ldhId": "1746109686", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746109686", "rev": "_jCDzcUi---" }, { "created": "2024-03-19T18:38:48.195Z", "entType": "CriteriaCode", "ldhId": "1746109683", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746109683", "rev": "_jCDzcci---" }, { "created": "2024-03-19T18:38:48.195Z", "entType": "CriteriaCode", "ldhId": "1746109677", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746109677", "rev": "_jCDzcuq---" }, { "created": "2024-03-19T18:38:48.195Z", "entType": "CriteriaCode", "ldhId": "1746109670", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746109670", "rev": "_jCDzchi---" }, { "created": "2024-03-19T18:38:48.195Z", "entType": "CriteriaCode", "ldhId": "1746109665", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746109665", "rev": "_jCDzcxS---" }, { "created": "2024-03-19T18:38:48.195Z", "entType": "CriteriaCode", "ldhId": "1746109685", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746109685", "rev": "_jCDzcVm---" }, { "created": "2024-03-19T18:38:48.195Z", "entType": "CriteriaCode", "ldhId": "1746109684", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746109684", "rev": "_jCDzcWy---" }, { "created": "2024-03-19T18:38:48.195Z", "entType": "CriteriaCode", "ldhId": "1746109681", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746109681", "rev": "_jCDzclq---" }, { "created": "2024-03-19T18:38:48.195Z", "entType": "CriteriaCode", "ldhId": "1746109678", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746109678", "rev": "_jCDzceS---" }, { "created": "2024-03-19T18:38:48.195Z", "entType": "CriteriaCode", "ldhId": "1746109675", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746109675", "rev": "_jCDzcqy---" }, { "created": "2024-03-19T18:38:48.195Z", "entType": "CriteriaCode", "ldhId": "1746109674", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746109674", "rev": "_jCDzcfu---" }, { "created": "2024-03-19T18:38:48.195Z", "entType": "CriteriaCode", "ldhId": "1746109672", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746109672", "rev": "_jCDzcrm---" }, { "created": "2024-03-19T18:38:48.195Z", "entType": "CriteriaCode", "ldhId": "1746109671", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746109671", "rev": "_jCDzcs6---" }, { "created": "2024-03-19T18:38:48.195Z", "entType": "CriteriaCode", "ldhId": "1746109661", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746109661", "rev": "_jCDzcpq---" }, { "created": "2024-03-19T18:38:48.195Z", "entType": "CriteriaCode", "ldhId": "1746109673", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746109673", "rev": "_jCDzcgW---" }, { "created": "2024-03-19T18:38:48.195Z", "entType": "CriteriaCode", "ldhId": "1746109669", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746109669", "rev": "_jCDzcti---" }, { "created": "2024-03-19T18:38:48.195Z", "entType": "CriteriaCode", "ldhId": "1746109664", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746109664", "rev": "_jCDzcoq---" }, { "created": "2024-03-19T18:38:48.195Z", "entType": "CriteriaCode", "ldhId": "1746109663", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1746109663", "rev": "_jCDzcaO---" } ], "Disease": [ { "entId": "MONDO:0100062", "entIri": "http://purl.obolibrary.org/obo/MONDO_0100062", "entType": "Disease", "ldhId": "467881472", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/467881472", "rev": "_kZ7z39S---" }, { "entId": "MONDO:0018214", "entIri": "http://purl.obolibrary.org/obo/MONDO_0018214", "entType": "Disease", "ldhId": "467877022", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/467877022", "rev": "_kZ7yWEu---" } ], "Gene": [ { "entId": "SCN1B", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10586", "entType": "Gene", "ldhId": "467855390", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/467855390", "rev": "_inf5CFO--V" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "643243153", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/643243153", "rev": "_jCDzb72---" } ] }, "ldFor": { "Organization": [ { "entId": "50105", "entIri": "http://clinicalgenome.org/affiliation/50105", "entType": "Organization", "ldhId": "639508904", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/639508904", "rev": "_inf5B-2--J" } ], "SequenceVariantInterpretation": [ { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" } ] }, "ldhId": "643243146", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243146", "modified": "2025-01-07T15:50:04.678Z", "modifier": "laceysmith", "rev": "_jCDzbo----" }, { "entContent": { "approvedOn": "2025-07-14T21:29:13.725Z", "description": "Summary of ACMG-AMP Criteria for PALB2 (autosomal dominant and autosomal recessive disorders)", "namespace": "GN077", "releaseNotes": "Release notes v1.2\n\nProvided % for PM2 and clarified use of gnomAD v4 \nClarified when to assume in trans for PM3 \nProvided PP1 guidance for AR condition   \nAdded SpliceAI thresholds for PP3 and BP4 \nClarified use of PP3/BP4 in the presence of RNA data \nUpdated MONDO from hereditary breast carcinoma and familial pancreatic carcinoma to PALB2-related cancer predisposition \nMinor formatting adjustments", "shortTitle": "Hereditary Breast, Ovarian and Pancreatic Cancer Specification", "specificationSource": "", "states": [ { "current": false, "event": { "modifiedBy": "meganholdren", "name": "cspec-created", "prevState": "START", "timeStamp": "2022-09-19T19:40:21.917Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "mhoenig", "name": "pilot-rules-submitted", "prevState": "Pilot Rules In Prep", "timeStamp": "2025-06-09T15:12:46.986Z" }, "name": "Pilot Rules Submitted" }, { "current": false, "event": { "modifiedBy": "meganholdren", "name": "pilot-rules-withdrawn", "prevState": "Pilot Rules Submitted", "timeStamp": "2023-01-04T19:06:13.746Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "sharriso", "name": "pilot-rules-reviewed", "prevState": "Pilot Rules Submitted", "timeStamp": "2025-04-22T16:32:29.197Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "sharriso", "name": "pilot-rules-approved", "prevState": "Pilot Rules Submitted", "timeStamp": "2025-07-11T19:31:35.557Z" }, "name": "Approved For Release" }, { "current": true, "event": { "modifiedBy": "mhoenig", "name": "cspec-released", "prevState": "Approved For Release", "timeStamp": "2025-07-14T21:29:13.725Z" }, "name": "Released" }, { "current": false, "event": { "modifiedBy": "mhoenig", "name": "cspec-reopened", "prevState": "Released", "timeStamp": "2024-12-20T16:33:06.438Z" }, "name": "Pilot Rules In Prep" } ], "tagNameSpaces": [ "077" ], "title": "ClinGen Hereditary Breast, Ovarian and Pancreatic Cancer Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for PALB2 Version 1.2.0", "type": "Richards et.al., 2015 - Combining rules", "version": "1.2.0", "versioned": true }, "entId": "GN077", "entType": "SequenceVariantInterpretation", "ld": { "CriteriaCode": [ { "entType": "CriteriaCode", "ldhId": "1566584512", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1566584512", "rev": "_k-pVga----" }, { "entType": "CriteriaCode", "ldhId": "1566584500", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1566584500", "rev": "_k-pVgXi--E" }, { "entType": "CriteriaCode", "ldhId": "1566584499", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1566584499", "rev": "_k-pVgd----" }, { "entType": "CriteriaCode", "ldhId": "1566584518", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1566584518", "rev": "_k-pVgeK---" }, { "entType": "CriteriaCode", "ldhId": "1566584517", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1566584517", "rev": "_k-pVgea---" }, { "entType": "CriteriaCode", "ldhId": "1566584513", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1566584513", "rev": "_k-pVgfW---" }, { "entType": "CriteriaCode", "ldhId": "1566584511", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1566584511", "rev": "_k-pVgWe---" }, { "entType": "CriteriaCode", "ldhId": "1566584510", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1566584510", "rev": "_k-pVgfu---" }, { "entType": "CriteriaCode", "ldhId": "1566584509", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1566584509", "rev": "_k-pVgaa--_" }, { "entType": "CriteriaCode", "ldhId": "1566584506", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1566584506", "rev": "_k-pVgaq--A" }, { "entType": "CriteriaCode", "ldhId": "1566584502", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1566584502", "rev": "_k-pVgby---" }, { "entType": "CriteriaCode", "ldhId": "1566584498", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1566584498", "rev": "_k-pVgdK---" }, { "entType": "CriteriaCode", "ldhId": "1566584497", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1566584497", "rev": "_k-pVgY6---" }, { "entType": "CriteriaCode", "ldhId": "1566584496", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1566584496", "rev": "_k-pVgYG---" }, { "entType": "CriteriaCode", "ldhId": "1566584508", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1566584508", "rev": "_k-pVgXK---" }, { "entType": "CriteriaCode", "ldhId": "1566584503", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1566584503", "rev": "_k-pVgcm--B" }, { "entType": "CriteriaCode", "ldhId": "1566584492", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1566584492", "rev": "_k-pVgd2---" }, { "entType": "CriteriaCode", "ldhId": "1566584519", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1566584519", "rev": "_k-pVgYi---" }, { "entType": "CriteriaCode", "ldhId": "1566584516", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1566584516", "rev": "_k-pVgeq---" }, { "entType": "CriteriaCode", "ldhId": "1566584514", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1566584514", "rev": "_k-pVgf----" }, { "entType": "CriteriaCode", "ldhId": "1566584504", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1566584504", "rev": "_k-pVgbW--A" }, { "entType": "CriteriaCode", "ldhId": "1566584495", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1566584495", "rev": "_k-pVgcK---" }, { "entType": "CriteriaCode", "ldhId": "1566584515", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1566584515", "rev": "_k-pVgZu---" }, { "entType": "CriteriaCode", "ldhId": "1566584507", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1566584507", "rev": "_k-pVgcW---" }, { "entType": "CriteriaCode", "ldhId": "1566584505", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1566584505", "rev": "_k-pVga6---" }, { "entType": "CriteriaCode", "ldhId": "1566584501", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1566584501", "rev": "_k-pVgcy---" }, { "entType": "CriteriaCode", "ldhId": "1566584494", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1566584494", "rev": "_k-pVgZS--A" }, { "entType": "CriteriaCode", "ldhId": "1566584493", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1566584493", "rev": "_k-pVgdi---" } ], "Disease": [ { "entId": "MONDO:0012565", "entIri": "http://purl.obolibrary.org/obo/MONDO_0012565", "entType": "Disease", "ldhId": "467875876", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/467875876", "rev": "_kZ7xJwe---" }, { "entId": "MONDO:0015278", "entIri": "http://purl.obolibrary.org/obo/MONDO_0015278", "entType": "Disease", "ldhId": "467895128", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/467895128", "rev": "_kZ7xt9K---" }, { "created": "2024-11-20T22:14:03.908Z", "entId": "MONDO:0700272", "entIri": "http://purl.obolibrary.org/obo/MONDO_0700272", "entType": "Disease", "ldhId": "66816764", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/66816764", "rev": "_kZ70Dpu---" }, { "entId": "MONDO:0016419", "entIri": "http://purl.obolibrary.org/obo/MONDO_0016419", "entType": "Disease", "ldhId": "467880845", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/467880845", "rev": "_kZ7x9o----" } ], "Gene": [ { "entId": "PALB2", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:26144", "entType": "Gene", "ldhId": "467844262", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/467844262", "rev": "_inf5B0W--l" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "1526222369", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/1526222369", "rev": "_k-pVgO6---" } ] }, "ldFor": { "Organization": [ { "entId": "50039", "entIri": "http://clinicalgenome.org/affiliation/50039", "entType": "Organization", "ldhId": "639508880", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/639508880", "rev": "_inf5B_G--X" } ], "SequenceVariantInterpretation": [ { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" } ] }, "ldhId": "1526222356", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1526222356", "modified": "2025-07-14T21:29:14.120Z", "modifier": "mhoenig", "rev": "_k-pVgJq---" }, { "entContent": { "approvedOn": "2025-01-10T22:36:48.784Z", "description": "", "namespace": "GN078", "releaseNotes": "Please see clarifications made to PM2, BA1 and BS1. We updated language to gnomAD v4, removed language around using the “non-cancer” set (which did not contain TCGA germline samples) as this set is no longer used in v4. We changed PM2\\_Supporting from complete absence in gnomAD to PM2\\_Supporting ≤ 1.56E-6 GroupMax FAF. This is one order of magnitude less than the BS1 cut-off and strictly limits the presence of variants in gnomAD v4 but does not require complete absence.\n\nV 1.1.0 Disease entity and transcript added", "releasedUnderRevision": true, "shortTitle": "VHL Specification", "specificationSource": "", "states": [ { "current": false, "event": { "modifiedBy": "dritter@bcm.edu", "name": "cspec-created", "prevState": "START", "timeStamp": "2022-09-28T19:36:26.972Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "dritter@bcm.edu", "name": "pilot-rules-submitted", "prevState": "Pilot Rules In Prep", "timeStamp": "2024-11-07T19:55:01.216Z" }, "name": "Pilot Rules Submitted" }, { "current": false, "event": { "modifiedBy": "strande@email.unc.edu", "name": "pilot-rules-reviewed", "prevState": "Pilot Rules Submitted", "timeStamp": "2023-08-23T14:19:44.628Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "dritter@bcm.edu", "name": "pilot-rules-reviewed", "prevState": "Approved For Release", "timeStamp": "2024-01-09T14:19:44.628Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "sharriso", "name": "pilot-rules-approved", "prevState": "Pilot Rules Submitted", "timeStamp": "2025-01-10T21:52:48.528Z" }, "name": "Approved For Release" }, { "current": true, "event": { "modifiedBy": "dritter@bcm.edu", "name": "cspec-released", "prevState": "Approved For Release", "timeStamp": "2025-01-10T22:36:48.784Z" }, "name": "Released" }, { "current": false, "event": { "modifiedBy": "dritter@bcm.edu", "name": "cspec-reopened", "prevState": "Released", "timeStamp": "2024-11-07T19:49:52.332Z" }, "name": "Pilot Rules In Prep" } ], "tagNameSpaces": [ "078" ], "title": "ClinGen VHL Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for VHL Version 1.1.0", "version": "1.1.0", "versioned": true }, "entId": "GN078", "entType": "SequenceVariantInterpretation", "ld": { "CriteriaCode": [ { "created": "2024-02-29T04:26:35.312Z", "entType": "CriteriaCode", "ldhId": "1743943310", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1743943310", "rev": "_jDHa7RO---" }, { "created": "2024-02-29T04:26:35.312Z", "entType": "CriteriaCode", "ldhId": "1743943307", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1743943307", "rev": "_jDHa7Tm---" }, { "created": "2024-02-29T04:26:35.312Z", "entType": "CriteriaCode", "ldhId": "1743943303", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1743943303", "rev": "_jDHa7Hi---" }, { "created": "2024-02-29T04:26:35.312Z", "entType": "CriteriaCode", "ldhId": "1743943302", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1743943302", "rev": "_jDHa7YW---" }, { "created": "2024-02-29T04:26:35.312Z", "entType": "CriteriaCode", "ldhId": "1743943301", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1743943301", "rev": "_jDHa7bO---" }, { "created": "2024-02-29T04:26:35.312Z", "entType": "CriteriaCode", "ldhId": "1743943299", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1743943299", "rev": "_jDHa7I6---" }, { "created": "2024-02-29T04:26:35.312Z", "entType": "CriteriaCode", "ldhId": "1743943295", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1743943295", "rev": "_jDHa7WG---" }, { "created": "2024-02-29T04:26:35.312Z", "entType": "CriteriaCode", "ldhId": "1743943289", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1743943289", "rev": "_jDHa7Jy---" }, { "created": "2024-02-29T04:26:35.312Z", "entType": "CriteriaCode", "ldhId": "1743943306", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1743943306", "rev": "_jDHa7Ua---" }, { "created": "2024-02-29T04:26:35.312Z", "entType": "CriteriaCode", "ldhId": "1743943304", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1743943304", "rev": "_jDHa7G2---" }, { "created": "2024-02-29T04:26:35.312Z", "entType": "CriteriaCode", "ldhId": "1743943297", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1743943297", "rev": "_jDHa7cq---" }, { "created": "2024-02-29T04:26:35.312Z", "entType": "CriteriaCode", "ldhId": "1743943294", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1743943294", "rev": "_jDHa7d6---" }, { "created": "2024-02-29T04:26:35.312Z", "entType": "CriteriaCode", "ldhId": "1743943286", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1743943286", "rev": "_jDHa7K2---" }, { "created": "2024-02-29T04:26:35.312Z", "entType": "CriteriaCode", "ldhId": "1743943309", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1743943309", "rev": "_jDHa7Fe---" }, { "created": "2024-02-29T04:26:35.312Z", "entType": "CriteriaCode", "ldhId": "1743943300", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1743943300", "rev": "_jDHa7b2---" }, { "created": "2024-02-29T04:26:35.312Z", "entType": "CriteriaCode", "ldhId": "1743943298", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1743943298", "rev": "_jDHa7NG---" }, { "created": "2024-02-29T04:26:35.312Z", "entType": "CriteriaCode", "ldhId": "1743943308", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1743943308", "rev": "_jDHa7Sm---" }, { "created": "2024-02-29T04:26:35.312Z", "entType": "CriteriaCode", "ldhId": "1743943305", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1743943305", "rev": "_jDHa7L6---" }, { "created": "2024-02-29T04:26:35.312Z", "entType": "CriteriaCode", "ldhId": "1743943292", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1743943292", "rev": "_jDHa7f----" }, { "created": "2024-02-29T04:26:35.312Z", "entType": "CriteriaCode", "ldhId": "1743943291", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1743943291", "rev": "_jDHa7N2---" }, { "created": "2024-02-29T04:26:35.312Z", "entType": "CriteriaCode", "ldhId": "1743943288", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1743943288", "rev": "_jDHa7aa---" }, { "created": "2024-02-29T04:26:35.312Z", "entType": "CriteriaCode", "ldhId": "1743943287", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1743943287", "rev": "_jDHa7PC---" }, { "created": "2024-02-29T04:26:35.312Z", "entType": "CriteriaCode", "ldhId": "1743943283", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1743943283", "rev": "_jDHa7gq---" }, { "created": "2024-02-29T04:26:35.312Z", "entType": "CriteriaCode", "ldhId": "1743943296", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1743943296", "rev": "_jDHa7Vi---" }, { "created": "2024-02-29T04:26:35.312Z", "entType": "CriteriaCode", "ldhId": "1743943293", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1743943293", "rev": "_jDHa7XC---" }, { "created": "2024-02-29T04:26:35.312Z", "entType": "CriteriaCode", "ldhId": "1743943290", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1743943290", "rev": "_jDHa7ZW---" }, { "created": "2024-02-29T04:26:35.312Z", "entType": "CriteriaCode", "ldhId": "1743943285", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1743943285", "rev": "_jDHa7QG---" }, { "created": "2024-02-29T04:26:35.312Z", "entType": "CriteriaCode", "ldhId": "1743943284", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1743943284", "rev": "_jDHa7fq---" } ], "Disease": [ { "entId": "MONDO:0008667", "entIri": "http://purl.obolibrary.org/obo/MONDO_0008667", "entType": "Disease", "ldhId": "467878137", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/467878137", "rev": "_kZ7wVoS---" } ], "Gene": [ { "entId": "VHL", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12687", "entType": "Gene", "ldhId": "467863504", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/467863504", "rev": "_inf5CN6--O" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "1527855768", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/1527855768", "rev": "_jDHa6tm---" } ] }, "ldFor": { "Organization": [ { "entId": "50036", "entIri": "http://clinicalgenome.org/affiliation/50036", "entType": "Organization", "ldhId": "639508878", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/639508878", "rev": "_inf5B_G--f" } ], "SequenceVariantInterpretation": [ { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" } ] }, "ldhId": "1527855755", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1527855755", "modified": "2025-01-10T22:36:50.423Z", "modifier": "dritter@bcm.edu", "rev": "_jDHa6ZO---" }, { "entContent": { "approvedOn": "2025-09-29T16:58:32.985Z", "description": "Rule specifications for Bernard-Soulier syndrome associated with the GP1BA gene.\n ", "namespace": "GN079", "releaseNotes": "The BP4 rule was corrected to include less than “or equal to”.", "shortTitle": "Platelet Disorders Specification", "specificationSource": "", "states": [ { "current": false, "event": { "modifiedBy": "leekristy", "name": "cspec-created", "prevState": "START", "timeStamp": "2022-09-28T19:45:18.591Z" }, "name": "Classification Rules In Prep" }, { "current": false, "event": { "modifiedBy": "leekristy", "name": "classified-rules-submitted", "prevState": "Classification Rules In Prep", "timeStamp": "2023-02-10T15:02:49.573Z" }, "name": "Classification Rules Submitted" }, { "current": false, "event": { "modifiedBy": "strande@email.unc.edu", "name": "classified-rules-reviewed", "prevState": "Classification Rules Submitted", "timeStamp": "2023-01-17T19:00:24.643Z" }, "name": "Classification Rules In Prep" }, { "current": false, "event": { "modifiedBy": "strande@email.unc.edu", "name": "classified-rules-approved", "prevState": "Classification Rules Submitted", "timeStamp": "2023-05-10T20:38:19.850Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "leekristy", "name": "pilot-rules-submitted", "prevState": "Pilot Rules In Prep", "timeStamp": "2025-09-11T20:35:33.343Z" }, "name": "Pilot Rules Submitted" }, { "current": false, "event": { "modifiedBy": "leekristy", "name": "pilot-rules-withdrawn", "prevState": "Pilot Rules Submitted", "timeStamp": "2024-07-31T14:11:32.827Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "alexadickson", "name": "pilot-rules-approved", "prevState": "Pilot Rules Submitted", "timeStamp": "2025-09-24T15:36:45.078Z" }, "name": "Approved For Release" }, { "current": false, "event": { "modifiedBy": "cspecAdministrator", "name": "pilot-rules-reviewed", "prevState": "Approved For Release", "timeStamp": "2025-02-11T10:27:50.063Z" }, "name": "Pilot Rules In Prep" }, { "current": true, "event": { "modifiedBy": "leekristy", "name": "cspec-released", "prevState": "Approved For Release", "timeStamp": "2025-09-29T16:58:32.985Z" }, "name": "Released" }, { "current": false, "event": { "modifiedBy": "leekristy", "name": "cspec-reopened", "prevState": "Released", "timeStamp": "2025-09-11T20:34:18.811Z" }, "name": "Pilot Rules In Prep" } ], "tagNameSpaces": [ "079" ], "title": "ClinGen Platelet Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for GP1BA Version 1.1.0", "type": "Richards et.al., 2015 - Combining rules", "version": "1.1.0", "versioned": true }, "entId": "GN079", "entType": "SequenceVariantInterpretation", "ld": { "CriteriaCode": [ { "created": "2025-02-12T13:36:04.680Z", "entType": "CriteriaCode", "ldhId": "116281433", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/116281433", "rev": "_kXXnXYC---" }, { "created": "2025-02-12T13:36:04.680Z", "entType": "CriteriaCode", "ldhId": "116281432", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/116281432", "rev": "_kXXnXX2---" }, { "created": "2025-02-12T13:36:04.680Z", "entType": "CriteriaCode", "ldhId": "116281408", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/116281408", "rev": "_kXXnXV2---" }, { "created": "2025-02-12T13:36:04.680Z", "entType": "CriteriaCode", "ldhId": "116281435", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/116281435", "rev": "_kXXnXYi---" }, { "created": "2025-02-12T13:36:04.680Z", "entType": "CriteriaCode", "ldhId": "116281434", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/116281434", "rev": "_kXXnXYS---" }, { "created": "2025-02-12T13:36:04.680Z", "entType": "CriteriaCode", "ldhId": "116281431", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/116281431", "rev": "_kXXnXXe---" }, { "created": "2025-02-12T13:36:04.680Z", "entType": "CriteriaCode", "ldhId": "116281427", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/116281427", "rev": "_kXXnXSm---" }, { "created": "2025-02-12T13:36:04.680Z", "entType": "CriteriaCode", "ldhId": "116281424", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/116281424", "rev": "_kXXnXSW---" }, { "created": "2025-02-12T13:36:04.680Z", "entType": "CriteriaCode", "ldhId": "116281423", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/116281423", "rev": "_kXXnXRy---" }, { "created": "2025-02-12T13:36:04.680Z", "entType": "CriteriaCode", "ldhId": "116281422", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/116281422", "rev": "_kXXnXRi---" }, { "created": "2025-02-12T13:36:04.680Z", "entType": "CriteriaCode", "ldhId": "116281406", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/116281406", "rev": "_kXXnXU----" }, { "created": "2025-02-12T13:36:04.680Z", "entType": "CriteriaCode", "ldhId": "116281428", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/116281428", "rev": "_kXXnXS6---" }, { "created": "2025-02-12T13:36:04.680Z", "entType": "CriteriaCode", "ldhId": "116281420", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/116281420", "rev": "_kXXnXQu---" }, { "created": "2025-02-12T13:36:04.680Z", "entType": "CriteriaCode", "ldhId": "116281414", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/116281414", "rev": "_kXXnXV----" }, { "created": "2025-02-12T13:36:04.680Z", "entType": "CriteriaCode", "ldhId": "116281413", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/116281413", "rev": "_kXXnXUy---" }, { "created": "2025-02-12T13:36:04.680Z", "entType": "CriteriaCode", "ldhId": "116281411", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/116281411", "rev": "_kXXnXUi---" }, { "created": "2025-02-12T13:36:04.680Z", "entType": "CriteriaCode", "ldhId": "116281410", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/116281410", "rev": "_kXXnXWa---" }, { "created": "2025-02-12T13:36:04.680Z", "entType": "CriteriaCode", "ldhId": "116281407", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/116281407", "rev": "_kXXnXUO---" }, { "created": "2025-02-12T13:36:04.680Z", "entType": "CriteriaCode", "ldhId": "116281436", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/116281436", "rev": "_kXXnXYu---" }, { "created": "2025-02-12T13:36:04.680Z", "entType": "CriteriaCode", "ldhId": "116281421", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/116281421", "rev": "_kXXnXRO---" }, { "created": "2025-02-12T13:36:04.680Z", "entType": "CriteriaCode", "ldhId": "116281417", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/116281417", "rev": "_kXXnXVS---" }, { "created": "2025-02-12T13:36:04.680Z", "entType": "CriteriaCode", "ldhId": "116281405", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/116281405", "rev": "_kXXnXTm---" }, { "created": "2025-02-12T13:36:04.680Z", "entType": "CriteriaCode", "ldhId": "116281404", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/116281404", "rev": "_kXXnXTW---" }, { "created": "2025-02-12T13:36:04.680Z", "entType": "CriteriaCode", "ldhId": "116281430", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/116281430", "rev": "_kXXnXXG---" }, { "created": "2025-02-12T13:36:04.680Z", "entType": "CriteriaCode", "ldhId": "116281429", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/116281429", "rev": "_kXXnXW2---" }, { "created": "2025-02-12T13:36:04.680Z", "entType": "CriteriaCode", "ldhId": "116281419", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/116281419", "rev": "_kXXnXQS---" }, { "created": "2025-02-12T13:36:04.680Z", "entType": "CriteriaCode", "ldhId": "116281418", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/116281418", "rev": "_kXXnXVq---" }, { "created": "2025-02-12T13:36:04.680Z", "entType": "CriteriaCode", "ldhId": "116281409", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/116281409", "rev": "_kXXnXWG---" } ], "Disease": [ { "entId": "MONDO:0009276", "entIri": "http://purl.obolibrary.org/obo/MONDO_0009276", "entType": "Disease", "ldhId": "467874358", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/467874358", "rev": "_kZ7wdV----" } ], "Gene": [ { "entId": "GP1BA", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4439", "entType": "Gene", "ldhId": "467828070", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/467828070", "rev": "_inf5BNO--K" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "1527857191", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/1527857191", "rev": "_kXXnXKq---" } ] }, "ldFor": { "Organization": [ { "entId": "50040", "entIri": "https://www.clinicalgenome.org/affiliation/50040", "entType": "Organization", "ldhId": "135637652", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/135637652", "rev": "_inf5B_---B" } ], "SequenceVariantInterpretation": [ { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" } ] }, "ldhId": "1527857178", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1527857178", "modified": "2025-09-29T16:58:33.423Z", "modifier": "leekristy", "rev": "_kXXnXFu---" }, { "entContent": { "approvedOn": "2026-04-16T14:44:12.545Z", "description": "Rule specifications for hemophilia B.", "namespace": "GN080", "releaseNotes": "v2.1.0 corrects the PVS1 Decision Tree file.\n\nEdits post SVI review\n\nPVS1 - Updated to include RNA recommendations based on Walker, et al paper.\n\nPP3/BP4/BP7 - Updated SpliceAI cut off based on Walker, et al paper.\n\nPS4 - changed requirement that only 3 hemizygotes could be present in gnomAD in order to apply code. This was changed as a result of the increased number of individuals in gnomAD v4.1. Now using a ratio to avoid needing to update regularly in the future.\n\nBS2- fixed typo\n\nPS1 - added splicing option from Walker, et al.\n\nPS3 - downgraded all assays to supporting weight", "shortTitle": "Coagulation Factor Deficiency Specification", "specificationSource": "", "states": [ { "current": false, "event": { "modifiedBy": "leekristy", "name": "cspec-created", "prevState": "START", "timeStamp": "2022-09-28T19:49:44.254Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "leekristy", "name": "pilot-rules-submitted", "prevState": "Pilot Rules In Prep", "timeStamp": "2026-02-12T23:24:05.537Z" }, "name": "Pilot Rules Submitted" }, { "current": false, "event": { "modifiedBy": "leekristy", "name": "pilot-rules-withdrawn", "prevState": "Pilot Rules Submitted", "timeStamp": "2026-02-12T23:22:00.808Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "strande@email.unc.edu", "name": "pilot-rules-reviewed", "prevState": "Pilot Rules Submitted", "timeStamp": "2025-10-02T15:39:51.724Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "sharriso", "name": "pilot-rules-approved", "prevState": "Pilot Rules Submitted", "timeStamp": "2026-04-07T16:54:15.616Z" }, "name": "Approved For Release" }, { "current": true, "event": { "modifiedBy": "leekristy", "name": "cspec-released", "prevState": "Approved For Release", "timeStamp": "2026-04-16T14:44:12.545Z" }, "name": "Released" }, { "current": false, "event": { "modifiedBy": "leekristy", "name": "cspec-reopened", "prevState": "Released", "timeStamp": "2026-02-09T15:37:51.561Z" }, "name": "Pilot Rules In Prep" } ], "tagNameSpaces": [ "080" ], "title": "ClinGen Coagulation Factor Deficiency Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for F9 Version 2.1.0", "type": "Tavtigian et.al., 2020 - Bayesian adaptation of Richards et.al., 2015", "version": "2.1.0", "versioned": true }, "entId": "GN080", "entType": "SequenceVariantInterpretation", "ld": { "CriteriaCode": [ { "created": "2023-10-05T13:25:42.197Z", "entType": "CriteriaCode", "ldhId": "1620363717", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1620363717", "rev": "_lXY941K---" }, { "created": "2023-10-05T13:25:42.197Z", "entType": "CriteriaCode", "ldhId": "1620363714", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1620363714", "rev": "_lXY95Ba---" }, { "created": "2023-10-05T13:25:42.197Z", "entType": "CriteriaCode", "ldhId": "1620363712", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1620363712", "rev": "_lXY95-C---" }, { "created": "2023-10-05T13:25:42.197Z", "entType": "CriteriaCode", "ldhId": "1620363711", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1620363711", "rev": "_lXY95-q---" }, { "created": "2023-10-05T13:25:42.197Z", "entType": "CriteriaCode", "ldhId": "1620363709", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1620363709", "rev": "_lXY94yK---" }, { "created": "2023-10-05T13:25:42.197Z", "entType": "CriteriaCode", "ldhId": "1620363707", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1620363707", "rev": "_lXY942a---" }, { "created": "2023-10-05T13:25:42.197Z", "entType": "CriteriaCode", "ldhId": "1620363705", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1620363705", "rev": "_lXY95AW---" }, { "created": "2023-10-05T13:25:42.197Z", "entType": "CriteriaCode", "ldhId": "1620363704", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1620363704", "rev": "_lXY94y6---" }, { "created": "2023-10-05T13:25:42.197Z", "entType": "CriteriaCode", "ldhId": "1620363702", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1620363702", "rev": "_lXY9436---" }, { "created": "2023-10-05T13:25:42.197Z", "entType": "CriteriaCode", "ldhId": "1620363695", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1620363695", "rev": "_lXY946C---" }, { "created": "2023-10-05T13:25:42.197Z", "entType": "CriteriaCode", "ldhId": "1620363692", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1620363692", "rev": "_lXY947i---" }, { "created": "2023-10-05T13:25:42.197Z", "entType": "CriteriaCode", "ldhId": "1620363691", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1620363691", "rev": "_lXY948G---" }, { "created": "2023-10-05T13:25:42.197Z", "entType": "CriteriaCode", "ldhId": "1620363716", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1620363716", "rev": "_lXY9412---" }, { "created": "2023-10-05T13:25:42.197Z", "entType": "CriteriaCode", "ldhId": "1620363706", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1620363706", "rev": "_lXY95Ci---" }, { "created": "2023-10-05T13:25:42.197Z", "entType": "CriteriaCode", "ldhId": "1620363700", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1620363700", "rev": "_lXY944W---" }, { "created": "2023-10-05T13:25:42.197Z", "entType": "CriteriaCode", "ldhId": "1620363699", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1620363699", "rev": "_lXY9442---" }, { "created": "2023-10-05T13:25:42.197Z", "entType": "CriteriaCode", "ldhId": "1620363696", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1620363696", "rev": "_lXY945W---" }, { "created": "2023-10-05T13:25:42.197Z", "entType": "CriteriaCode", "ldhId": "1620363693", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1620363693", "rev": "_lXY95B----" }, { "created": "2023-10-05T13:25:42.197Z", "entType": "CriteriaCode", "ldhId": "1620363715", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1620363715", "rev": "_lXY947C---" }, { "created": "2023-10-05T13:25:42.197Z", "entType": "CriteriaCode", "ldhId": "1620363713", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1620363713", "rev": "_lXY949W---" }, { "created": "2023-10-05T13:25:42.197Z", "entType": "CriteriaCode", "ldhId": "1620363708", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1620363708", "rev": "_lXY95_u---" }, { "created": "2023-10-05T13:25:42.197Z", "entType": "CriteriaCode", "ldhId": "1620363703", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1620363703", "rev": "_lXY9426---" }, { "created": "2023-10-05T13:25:42.197Z", "entType": "CriteriaCode", "ldhId": "1620363697", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1620363697", "rev": "_lXY940m---" }, { "created": "2023-10-05T13:25:42.197Z", "entType": "CriteriaCode", "ldhId": "1620363694", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1620363694", "rev": "_lXY946a---" }, { "created": "2023-10-05T13:25:42.197Z", "entType": "CriteriaCode", "ldhId": "1620363710", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1620363710", "rev": "_lXY95B6---" }, { "created": "2023-10-05T13:25:42.197Z", "entType": "CriteriaCode", "ldhId": "1620363698", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1620363698", "rev": "_lXY940----" }, { "created": "2023-10-05T13:25:42.197Z", "entType": "CriteriaCode", "ldhId": "1620363690", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1620363690", "rev": "_lXY948u---" }, { "created": "2023-10-05T13:25:42.197Z", "entType": "CriteriaCode", "ldhId": "1620363701", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1620363701", "rev": "_lXY95D----" } ], "Disease": [ { "entId": "MONDO:0010604", "entIri": "http://purl.obolibrary.org/obo/MONDO_0010604", "entType": "Disease", "ldhId": "467893780", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/467893780", "rev": "_kZ7wwEq---" } ], "Gene": [ { "entId": "F9", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3551", "entType": "Gene", "ldhId": "467825577", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/467825577", "rev": "_inf5BMa--c" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "1527859065", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/1527859065", "rev": "_lXY94qu--A" } ] }, "ldFor": { "Organization": [ { "entId": "50041", "entIri": "http://clinicalgenome.org/affiliation/50041", "entType": "Organization", "ldhId": "639508881", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/639508881", "rev": "_inf5B_G--K" } ], "SequenceVariantInterpretation": [ { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" } ] }, "ldhId": "1527859052", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1527859052", "modified": "2026-04-16T14:44:12.961Z", "modifier": "leekristy", "rev": "_lXY94ja--D" }, { "entContent": { "approvedOn": "2024-07-09T13:42:11.153Z", "description": "Rule specifications for von Willebrand disease type 2A, 2B and 2M.", "namespace": "GN081", "releaseNotes": "", "shortTitle": "von Willebrand Disease Specification", "specificationSource": "", "states": [ { "current": false, "event": { "modifiedBy": "leekristy", "name": "cspec-created", "prevState": "START", "timeStamp": "2022-09-30T17:46:24.625Z" }, "name": "Classification Rules In Prep" }, { "current": false, "event": { "modifiedBy": "leekristy", "name": "classified-rules-submitted", "prevState": "Classification Rules In Prep", "timeStamp": "2022-12-13T13:32:24.226Z" }, "name": "Classification Rules Submitted" }, { "current": false, "event": { "modifiedBy": "strande@email.unc.edu", "name": "classified-rules-reviewed", "prevState": "Classification Rules Submitted", "timeStamp": "2022-12-09T20:57:53.636Z" }, "name": "Classification Rules In Prep" }, { "current": false, "event": { "modifiedBy": "strande@email.unc.edu", "name": "classified-rules-approved", "prevState": "Classification Rules Submitted", "timeStamp": "2023-01-06T15:51:24.825Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "leekristy", "name": "pilot-rules-submitted", "prevState": "Pilot Rules In Prep", "timeStamp": "2024-05-22T15:33:34.816Z" }, "name": "Pilot Rules Submitted" }, { "current": false, "event": { "modifiedBy": "leekristy", "name": "pilot-rules-withdrawn", "prevState": "Pilot Rules Submitted", "timeStamp": "2024-05-22T15:29:54.335Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "strande@email.unc.edu", "name": "pilot-rules-reviewed", "prevState": "Pilot Rules Submitted", "timeStamp": "2024-02-05T22:59:24.376Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "strande@email.unc.edu", "name": "pilot-rules-approved", "prevState": "Pilot Rules Submitted", "timeStamp": "2024-06-07T16:33:27.420Z" }, "name": "Approved For Release" }, { "current": true, "event": { "modifiedBy": "leekristy", "name": "cspec-released", "prevState": "Approved For Release", "timeStamp": "2024-07-09T13:42:11.153Z" }, "name": "Released" } ], "tagNameSpaces": [ "081" ], "title": "ClinGen von Willebrand Disease Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for VWF Version 1.0.0", "version": "1.0.0", "versioned": true }, "entId": "GN081", "entType": "SequenceVariantInterpretation", "ld": { "CriteriaCode": [ { "created": "2024-07-09T13:42:12.201Z", "entType": "CriteriaCode", "ldhId": "1807987698", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1807987698", "rev": "_inf5Atm--O" }, { "created": "2024-07-09T13:42:12.201Z", "entType": "CriteriaCode", "ldhId": "1807987693", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1807987693", "rev": "_inf5Ata--u" }, { "created": "2024-07-09T13:42:12.201Z", "entType": "CriteriaCode", "ldhId": "1807987691", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1807987691", "rev": "_inf5Atq--T" }, { "created": "2024-07-09T13:42:12.201Z", "entType": "CriteriaCode", "ldhId": "1807987685", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1807987685", "rev": "_inf5Ate-_-" }, { "created": "2024-07-09T13:42:12.201Z", "entType": "CriteriaCode", "ldhId": "1807987684", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1807987684", "rev": "_inf5Ati--6" }, { "created": "2024-07-09T13:42:12.201Z", "entType": "CriteriaCode", "ldhId": "1807987696", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1807987696", "rev": "_inf5Ate-_J" }, { "created": "2024-07-09T13:42:12.201Z", "entType": "CriteriaCode", "ldhId": "1807987690", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1807987690", "rev": "_inf5Ate-_E" }, { "created": "2024-07-09T13:42:12.201Z", "entType": "CriteriaCode", "ldhId": "1807987688", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1807987688", "rev": "_inf5Ate-_C" }, { "created": "2024-07-09T13:42:12.201Z", "entType": "CriteriaCode", "ldhId": "1807987687", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1807987687", "rev": "_inf5Atm--L" }, { "created": "2024-07-09T13:42:12.201Z", "entType": "CriteriaCode", "ldhId": "1807987682", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1807987682", "rev": "_inf5Atq--R" }, { "created": "2024-07-09T13:42:12.201Z", "entType": "CriteriaCode", "ldhId": "1807987677", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1807987677", "rev": "_inf5Atm--J" }, { "created": "2024-07-09T13:42:12.201Z", "entType": "CriteriaCode", "ldhId": "1807987675", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1807987675", "rev": "_inf5Ate--8" }, { "created": "2024-07-09T13:42:12.201Z", "entType": "CriteriaCode", "ldhId": "1807987689", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1807987689", "rev": "_inf5Atm--M" }, { "created": "2024-07-09T13:42:12.201Z", "entType": "CriteriaCode", "ldhId": "1807987686", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1807987686", "rev": "_inf5Ate-_A" }, { "created": "2024-07-09T13:42:12.201Z", "entType": "CriteriaCode", "ldhId": "1807987683", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1807987683", "rev": "_inf5Atq--S" }, { "created": "2024-07-09T13:42:12.201Z", "entType": "CriteriaCode", "ldhId": "1807987674", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1807987674", "rev": "_inf5Ati--z" }, { "created": "2024-07-09T13:42:12.201Z", "entType": "CriteriaCode", "ldhId": "1807987673", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1807987673", "rev": "_inf5Ate--6" }, { "created": "2024-07-09T13:42:12.201Z", "entType": "CriteriaCode", "ldhId": "1807987678", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1807987678", "rev": "_inf5Ati--1" }, { "created": "2024-07-09T13:42:12.201Z", "entType": "CriteriaCode", "ldhId": "1807987672", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1807987672", "rev": "_inf5Ata--s" }, { "created": "2024-07-09T13:42:12.201Z", "entType": "CriteriaCode", "ldhId": "1807987671", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1807987671", "rev": "_inf5Ati--x" }, { "created": "2024-07-09T13:42:12.201Z", "entType": "CriteriaCode", "ldhId": "1807987697", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1807987697", "rev": "_inf5Ate-_L" }, { "created": "2024-07-09T13:42:12.201Z", "entType": "CriteriaCode", "ldhId": "1807987695", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1807987695", "rev": "_inf5Ate-_H" }, { "created": "2024-07-09T13:42:12.201Z", "entType": "CriteriaCode", "ldhId": "1807987694", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1807987694", "rev": "_inf5Atm--N" }, { "created": "2024-07-09T13:42:12.201Z", "entType": "CriteriaCode", "ldhId": "1807987692", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1807987692", "rev": "_inf5Ate-_F" }, { "created": "2024-07-09T13:42:12.201Z", "entType": "CriteriaCode", "ldhId": "1807987681", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1807987681", "rev": "_inf5Atm--K" }, { "created": "2024-07-09T13:42:12.201Z", "entType": "CriteriaCode", "ldhId": "1807987680", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1807987680", "rev": "_inf5Ati--4" }, { "created": "2024-07-09T13:42:12.201Z", "entType": "CriteriaCode", "ldhId": "1807987679", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1807987679", "rev": "_inf5Ati--3" }, { "created": "2024-07-09T13:42:12.201Z", "entType": "CriteriaCode", "ldhId": "1807987676", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1807987676", "rev": "_inf5Atq--Q" } ], "Disease": [ { "entId": "MONDO:0015629", "entIri": "http://purl.obolibrary.org/obo/MONDO_0015629", "entType": "Disease", "ldhId": "467885567", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/467885567", "rev": "_kZ7xzFu---" }, { "entId": "MONDO:0024574", "entIri": "http://purl.obolibrary.org/obo/MONDO_0024574", "entType": "Disease", "ldhId": "467875969", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/467875969", "rev": "_kZ7zQf6---" }, { "entId": "MONDO:0015630", "entIri": "http://purl.obolibrary.org/obo/MONDO_0015630", "entType": "Disease", "ldhId": "467885578", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/467885578", "rev": "_kZ7xzF2---" }, { "entId": "MONDO:0013304", "entIri": "http://purl.obolibrary.org/obo/MONDO_0013304", "entType": "Disease", "ldhId": "467884028", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/467884028", "rev": "_kZ7xUFa---" }, { "entId": "MONDO:0015628", "entIri": "http://purl.obolibrary.org/obo/MONDO_0015628", "entType": "Disease", "ldhId": "467885569", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/467885569", "rev": "_kZ7xzFi---" } ], "Gene": [ { "entId": "VWF", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12726", "entType": "Gene", "ldhId": "467863817", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/467863817", "rev": "_inf5COC--f" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "1528062428", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/1528062428", "rev": "_inf5BHe--q" } ] }, "ldFor": { "Organization": [ { "entId": "50051", "entIri": "http://clinicalgenome.org/affiliation/50051", "entType": "Organization", "ldhId": "639508886", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/639508886", "rev": "_inf5B_---U" } ], "SequenceVariantInterpretation": [ { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" } ] }, "ldhId": "1528062415", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1528062415", "modified": "2024-07-09T13:42:11.947Z", "modifier": "leekristy", "rev": "_inf5BXW--T" }, { "entContent": { "approvedOn": "2025-09-29T16:59:02.440Z", "description": "Rule specifications for Bernard-Soulier syndrome associated with the GP1BB gene.", "namespace": "GN082", "releaseNotes": "The BP4 rule was corrected to include less than “or equal to”.", "shortTitle": "Platelet Disorders Specification", "specificationSource": "", "states": [ { "current": false, "event": { "modifiedBy": "leekristy", "name": "cspec-created", "prevState": "START", "timeStamp": "2022-09-30T19:24:29.972Z" }, "name": "Classification Rules In Prep" }, { "current": false, "event": { "modifiedBy": "leekristy", "name": "classified-rules-submitted", "prevState": "Classification Rules In Prep", "timeStamp": "2023-02-10T15:03:09.005Z" }, "name": "Classification Rules Submitted" }, { "current": false, "event": { "modifiedBy": "strande@email.unc.edu", "name": "classified-rules-reviewed", "prevState": "Classification Rules Submitted", "timeStamp": "2023-01-17T19:00:54.589Z" }, "name": "Classification Rules In Prep" }, { "current": false, "event": { "modifiedBy": "strande@email.unc.edu", "name": "classified-rules-approved", "prevState": "Classification Rules Submitted", "timeStamp": "2023-05-10T20:39:45.728Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "leekristy", "name": "pilot-rules-submitted", "prevState": "Pilot Rules In Prep", "timeStamp": "2025-09-11T20:37:04.685Z" }, "name": "Pilot Rules Submitted" }, { "current": false, "event": { "modifiedBy": "leekristy", "name": "pilot-rules-withdrawn", "prevState": "Pilot Rules Submitted", "timeStamp": "2024-07-31T14:10:20.320Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "alexadickson", "name": "pilot-rules-approved", "prevState": "Pilot Rules Submitted", "timeStamp": "2025-09-24T15:37:05.005Z" }, "name": "Approved For Release" }, { "current": false, "event": { "modifiedBy": "cspecAdministrator", "name": "pilot-rules-reviewed", "prevState": "Approved For Release", "timeStamp": "2025-02-11T10:27:50.063Z" }, "name": "Pilot Rules In Prep" }, { "current": true, "event": { "modifiedBy": "leekristy", "name": "cspec-released", "prevState": "Approved For Release", "timeStamp": "2025-09-29T16:59:02.440Z" }, "name": "Released" }, { "current": false, "event": { "modifiedBy": "leekristy", "name": "cspec-reopened", "prevState": "Released", "timeStamp": "2025-09-11T20:35:58.606Z" }, "name": "Pilot Rules In Prep" } ], "tagNameSpaces": [ "082" ], "title": "ClinGen Platelet Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for GP1BB Version 1.1.0", "type": "Richards et.al., 2015 - Combining rules", "version": "1.1.0", "versioned": true }, "entId": "GN082", "entType": "SequenceVariantInterpretation", "ld": { "CriteriaCode": [ { "created": "2025-02-12T13:35:42.320Z", "entType": "CriteriaCode", "ldhId": "116280476", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/116280476", "rev": "_kXXnz5e---" }, { "created": "2025-02-12T13:35:42.320Z", "entType": "CriteriaCode", "ldhId": "116280479", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/116280479", "rev": "_kXXnz6i---" }, { "created": "2025-02-12T13:35:42.320Z", "entType": "CriteriaCode", "ldhId": "116280471", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/116280471", "rev": "_kXXnz8W---" }, { "created": "2025-02-12T13:35:42.320Z", "entType": "CriteriaCode", "ldhId": "116280470", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/116280470", "rev": "_kXXn0_W---" }, { "created": "2025-02-12T13:35:42.320Z", "entType": "CriteriaCode", "ldhId": "116280469", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/116280469", "rev": "_kXXn0_C---" }, { "created": "2025-02-12T13:35:42.320Z", "entType": "CriteriaCode", "ldhId": "116280463", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/116280463", "rev": "_kXXnz9a---" }, { "created": "2025-02-12T13:35:42.320Z", "entType": "CriteriaCode", "ldhId": "116280461", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/116280461", "rev": "_kXXn0Ay---" }, { "created": "2025-02-12T13:35:42.320Z", "entType": "CriteriaCode", "ldhId": "116280460", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/116280460", "rev": "_kXXn0Ai---" }, { "created": "2025-02-12T13:35:42.320Z", "entType": "CriteriaCode", "ldhId": "116280458", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/116280458", "rev": "_kXXn0A----" }, { "created": "2025-02-12T13:35:42.320Z", "entType": "CriteriaCode", "ldhId": "116280457", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/116280457", "rev": "_kXXn0_q---" }, { "created": "2025-02-12T13:35:42.320Z", "entType": "CriteriaCode", "ldhId": "116280487", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/116280487", "rev": "_kXXn0BW---" }, { "created": "2025-02-12T13:35:42.320Z", "entType": "CriteriaCode", "ldhId": "116280481", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/116280481", "rev": "_kXXnz7K---" }, { "created": "2025-02-12T13:35:42.320Z", "entType": "CriteriaCode", "ldhId": "116280477", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/116280477", "rev": "_kXXnz5y---" }, { "created": "2025-02-12T13:35:42.320Z", "entType": "CriteriaCode", "ldhId": "116280473", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/116280473", "rev": "_kXXnz82---" }, { "created": "2025-02-12T13:35:42.320Z", "entType": "CriteriaCode", "ldhId": "116280459", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/116280459", "rev": "_kXXn0AO---" }, { "created": "2025-02-12T13:35:42.320Z", "entType": "CriteriaCode", "ldhId": "116280482", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/116280482", "rev": "_kXXnz7a---" }, { "created": "2025-02-12T13:35:42.320Z", "entType": "CriteriaCode", "ldhId": "116280478", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/116280478", "rev": "_kXXnz6K---" }, { "created": "2025-02-12T13:35:42.320Z", "entType": "CriteriaCode", "ldhId": "116280472", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/116280472", "rev": "_kXXnz8q---" }, { "created": "2025-02-12T13:35:42.320Z", "entType": "CriteriaCode", "ldhId": "116280465", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/116280465", "rev": "_kXXnz92---" }, { "created": "2025-02-12T13:35:42.320Z", "entType": "CriteriaCode", "ldhId": "116280464", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/116280464", "rev": "_kXXnz9q---" }, { "created": "2025-02-12T13:35:42.320Z", "entType": "CriteriaCode", "ldhId": "116280484", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/116280484", "rev": "_kXXnz8----" }, { "created": "2025-02-12T13:35:42.320Z", "entType": "CriteriaCode", "ldhId": "116280483", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/116280483", "rev": "_kXXnz7u---" }, { "created": "2025-02-12T13:35:42.320Z", "entType": "CriteriaCode", "ldhId": "116280480", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/116280480", "rev": "_kXXnz66---" }, { "created": "2025-02-12T13:35:42.320Z", "entType": "CriteriaCode", "ldhId": "116280474", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/116280474", "rev": "_kXXnz9G---" }, { "created": "2025-02-12T13:35:42.320Z", "entType": "CriteriaCode", "ldhId": "116280468", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/116280468", "rev": "_kXXn0-q---" }, { "created": "2025-02-12T13:35:42.320Z", "entType": "CriteriaCode", "ldhId": "116280467", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/116280467", "rev": "_kXXn0-a---" }, { "created": "2025-02-12T13:35:42.320Z", "entType": "CriteriaCode", "ldhId": "116280466", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/116280466", "rev": "_kXXn0-K---" }, { "created": "2025-02-12T13:35:42.320Z", "entType": "CriteriaCode", "ldhId": "116280462", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/116280462", "rev": "_kXXn0BG---" } ], "Disease": [ { "entId": "MONDO:0009276", "entIri": "http://purl.obolibrary.org/obo/MONDO_0009276", "entType": "Disease", "ldhId": "467874358", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/467874358", "rev": "_kZ7wdV----" } ], "Gene": [ { "entId": "GP1BB", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4440", "entType": "Gene", "ldhId": "467828071", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/467828071", "rev": "_inf5BNS---" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "1528071540", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/1528071540", "rev": "_kXXnz0----" } ] }, "ldFor": { "Organization": [ { "entId": "50040", "entIri": "https://www.clinicalgenome.org/affiliation/50040", "entType": "Organization", "ldhId": "135637652", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/135637652", "rev": "_inf5B_---B" } ], "SequenceVariantInterpretation": [ { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" } ] }, "ldhId": "1528071527", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1528071527", "modified": "2025-09-29T16:59:02.782Z", "modifier": "leekristy", "rev": "_kXXnzvO---" }, { "entContent": { "approvedOn": "2025-09-29T16:59:32.638Z", "description": "Rule specifications for Bernard-Soulier syndrome associated with the GP9 gene.", "namespace": "GN083", "releaseNotes": "The BP4 rule was corrected to include less than “or equal to”.", "shortTitle": "Platelet Disorders Specification", "specificationSource": "", "states": [ { "current": false, "event": { "modifiedBy": "leekristy", "name": "cspec-created", "prevState": "START", "timeStamp": "2022-09-30T19:28:28.440Z" }, "name": "Classification Rules In Prep" }, { "current": false, "event": { "modifiedBy": "leekristy", "name": "classified-rules-submitted", "prevState": "Classification Rules In Prep", "timeStamp": "2023-02-10T15:01:50.473Z" }, "name": "Classification Rules Submitted" }, { "current": false, "event": { "modifiedBy": "strande@email.unc.edu", "name": "classified-rules-reviewed", "prevState": "Classification Rules Submitted", "timeStamp": "2023-01-17T19:00:42.735Z" }, "name": "Classification Rules In Prep" }, { "current": false, "event": { "modifiedBy": "strande@email.unc.edu", "name": "classified-rules-approved", "prevState": "Classification Rules Submitted", "timeStamp": "2023-05-10T20:40:46.282Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "leekristy", "name": "pilot-rules-submitted", "prevState": "Pilot Rules In Prep", "timeStamp": "2025-09-11T20:33:51.602Z" }, "name": "Pilot Rules Submitted" }, { "current": false, "event": { "modifiedBy": "justyne", "name": "pilot-rules-withdrawn", "prevState": "Pilot Rules Submitted", "timeStamp": "2024-09-20T14:21:15.517Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "alexadickson", "name": "pilot-rules-approved", "prevState": "Pilot Rules Submitted", "timeStamp": "2025-09-24T15:36:08.269Z" }, "name": "Approved For Release" }, { "current": false, "event": { "modifiedBy": "cspecAdministrator", "name": "pilot-rules-reviewed", "prevState": "Approved For Release", "timeStamp": "2025-02-11T10:27:50.063Z" }, "name": "Pilot Rules In Prep" }, { "current": true, "event": { "modifiedBy": "leekristy", "name": "cspec-released", "prevState": "Approved For Release", "timeStamp": "2025-09-29T16:59:32.638Z" }, "name": "Released" }, { "current": false, "event": { "modifiedBy": "leekristy", "name": "cspec-reopened", "prevState": "Released", "timeStamp": "2025-09-11T20:31:16.974Z" }, "name": "Pilot Rules In Prep" } ], "tagNameSpaces": [ "083" ], "title": "ClinGen Platelet Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for GP9 Version 1.1.0", "type": "Richards et.al., 2015 - Combining rules", "version": "1.1.0", "versioned": true }, "entId": "GN083", "entType": "SequenceVariantInterpretation", "ld": { "CriteriaCode": [ { "created": "2025-02-11T19:17:36.997Z", "entType": "CriteriaCode", "ldhId": "115438222", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/115438222", "rev": "_kXXoRWy---" }, { "created": "2025-02-11T19:17:36.997Z", "entType": "CriteriaCode", "ldhId": "115438212", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/115438212", "rev": "_kXXoRdS---" }, { "created": "2025-02-11T19:17:36.997Z", "entType": "CriteriaCode", "ldhId": "115438202", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/115438202", "rev": "_kXXoRX----" }, { "created": "2025-02-11T19:17:36.997Z", "entType": "CriteriaCode", "ldhId": "115438200", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/115438200", "rev": "_kXXoRca---" }, { "created": "2025-02-11T19:17:36.997Z", "entType": "CriteriaCode", "ldhId": "115438196", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/115438196", "rev": "_kXXoRbG---" }, { "created": "2025-02-11T19:17:36.997Z", "entType": "CriteriaCode", "ldhId": "115438193", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/115438193", "rev": "_kXXoRaS---" }, { "created": "2025-02-11T19:17:36.997Z", "entType": "CriteriaCode", "ldhId": "115438192", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/115438192", "rev": "_kXXoRaC---" }, { "created": "2025-02-11T19:17:36.997Z", "entType": "CriteriaCode", "ldhId": "115438216", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/115438216", "rev": "_kXXoRd2---" }, { "created": "2025-02-11T19:17:36.997Z", "entType": "CriteriaCode", "ldhId": "115438205", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/115438205", "rev": "_kXXoRY----" }, { "created": "2025-02-11T19:17:36.997Z", "entType": "CriteriaCode", "ldhId": "115438191", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/115438191", "rev": "_kXXoRZm---" }, { "created": "2025-02-11T19:17:36.997Z", "entType": "CriteriaCode", "ldhId": "115438219", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/115438219", "rev": "_kXXoRWG---" }, { "created": "2025-02-11T19:17:36.997Z", "entType": "CriteriaCode", "ldhId": "115438213", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/115438213", "rev": "_kXXoRdm---" }, { "created": "2025-02-11T19:17:36.997Z", "entType": "CriteriaCode", "ldhId": "115438210", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/115438210", "rev": "_kXXoRZO---" }, { "created": "2025-02-11T19:17:36.997Z", "entType": "CriteriaCode", "ldhId": "115438207", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/115438207", "rev": "_kXXoRYO---" }, { "created": "2025-02-11T19:17:36.997Z", "entType": "CriteriaCode", "ldhId": "115438203", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/115438203", "rev": "_kXXoRXS---" }, { "created": "2025-02-11T19:17:36.997Z", "entType": "CriteriaCode", "ldhId": "115438201", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/115438201", "rev": "_kXXoRcq---" }, { "created": "2025-02-11T19:17:36.997Z", "entType": "CriteriaCode", "ldhId": "115438198", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/115438198", "rev": "_kXXoRbu---" }, { "created": "2025-02-11T19:17:36.997Z", "entType": "CriteriaCode", "ldhId": "115438218", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/115438218", "rev": "_kXXoRee---" }, { "created": "2025-02-11T19:17:36.997Z", "entType": "CriteriaCode", "ldhId": "115438217", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/115438217", "rev": "_kXXoReK---" }, { "created": "2025-02-11T19:17:36.997Z", "entType": "CriteriaCode", "ldhId": "115438209", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/115438209", "rev": "_kXXoRY2---" }, { "created": "2025-02-11T19:17:36.997Z", "entType": "CriteriaCode", "ldhId": "115438204", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/115438204", "rev": "_kXXoRXu---" }, { "created": "2025-02-11T19:17:36.997Z", "entType": "CriteriaCode", "ldhId": "115438197", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/115438197", "rev": "_kXXoRbW---" }, { "created": "2025-02-11T19:17:36.997Z", "entType": "CriteriaCode", "ldhId": "115438194", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/115438194", "rev": "_kXXoRai---" }, { "created": "2025-02-11T19:17:36.997Z", "entType": "CriteriaCode", "ldhId": "115438220", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/115438220", "rev": "_kXXoRWe---" }, { "created": "2025-02-11T19:17:36.997Z", "entType": "CriteriaCode", "ldhId": "115438211", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/115438211", "rev": "_kXXoRd----" }, { "created": "2025-02-11T19:17:36.997Z", "entType": "CriteriaCode", "ldhId": "115438208", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/115438208", "rev": "_kXXoRYm---" }, { "created": "2025-02-11T19:17:36.997Z", "entType": "CriteriaCode", "ldhId": "115438199", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/115438199", "rev": "_kXXoRcC---" }, { "created": "2025-02-11T19:17:36.997Z", "entType": "CriteriaCode", "ldhId": "115438195", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/115438195", "rev": "_kXXoRay---" } ], "Disease": [ { "entId": "MONDO:0009276", "entIri": "http://purl.obolibrary.org/obo/MONDO_0009276", "entType": "Disease", "ldhId": "467874358", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/467874358", "rev": "_kZ7wdV----" } ], "Gene": [ { "entId": "GP9", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4444", "entType": "Gene", "ldhId": "467828076", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/467828076", "rev": "_inf5BNO--N" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "1528072656", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/1528072656", "rev": "_kXXoRQu---" } ] }, "ldFor": { "Organization": [ { "entId": "50040", "entIri": "https://www.clinicalgenome.org/affiliation/50040", "entType": "Organization", "ldhId": "135637652", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/135637652", "rev": "_inf5B_---B" } ], "SequenceVariantInterpretation": [ { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" } ] }, "ldhId": "1528072643", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1528072643", "modified": "2025-09-29T16:59:32.936Z", "modifier": "leekristy", "rev": "_kXXoRMG---" }, { "entContent": { "approvedOn": "2025-02-07T20:15:32.135Z", "description": "Rule specifications for antithrombin deficiency.", "namespace": "GN084", "releaseNotes": "All requested edits were made in this document and in the VCI, with exception of one. We would like the p.Cys29= variant to remain a VUS since there is only one benign code assigned. The point counting system is currently only being applied when conflicting rules codes are applied.", "releasedUnderRevision": true, "shortTitle": "Thrombosis Specification", "specificationSource": "", "states": [ { "current": false, "event": { "name": "cspec-created", "prevState": "START", "timeStamp": "2022-09-30T19:36:49.338Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "name": "pilot-rules-submitted", "prevState": "Pilot Rules In Prep", "timeStamp": "2025-03-05T20:29:06.798Z" }, "name": "Pilot Rules Submitted" }, { "current": false, "event": { "name": "pilot-rules-reviewed", "prevState": "Pilot Rules Submitted", "timeStamp": "2023-01-30T22:24:12.728Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "name": "pilot-rules-approved", "prevState": "Pilot Rules Submitted", "timeStamp": "2025-01-24T15:41:27.199Z" }, "name": "Approved For Release" }, { "current": false, "event": { "name": "cspec-released", "prevState": "Approved For Release", "timeStamp": "2025-02-07T20:15:32.135Z" }, "name": "Released" }, { "current": false, "event": { "name": "cspec-reopened", "prevState": "Released", "timeStamp": "2025-02-21T16:25:01.206Z" }, "name": "Pilot Rules In Prep" }, { "current": true, "event": { "name": "pilot-rules-withdrawn", "prevState": "Pilot Rules Submitted", "timeStamp": "2025-03-06T19:07:13.751Z" }, "name": "Pilot Rules In Prep" } ], "tagNameSpaces": [ "084" ], "title": "ClinGen Thrombosis Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SERPINC1 Version 1.1.0", "version": "1.1.0", "versioned": true }, "entId": "GN084", "entType": "SequenceVariantInterpretation", "ld": { "CriteriaCode": [ { "entType": "CriteriaCode", "ldhId": "1611900904", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1611900904", "rev": "_jMGLpNO---" }, { "entType": "CriteriaCode", "ldhId": "1611900901", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1611900901", "rev": "_jMGLpIO---" }, { "entType": "CriteriaCode", "ldhId": "1611900918", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1611900918", "rev": "_jMGLpVO---" }, { "entType": "CriteriaCode", "ldhId": "1611900914", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1611900914", "rev": "_jMGLpFu---" }, { "entType": "CriteriaCode", "ldhId": "1611900913", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1611900913", "rev": "_jMGLpGi---" }, { "entType": "CriteriaCode", "ldhId": "1611900902", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1611900902", "rev": "_jMGLpbS---" }, { "entType": "CriteriaCode", "ldhId": "1611900921", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1611900921", "rev": "_jMGLpUa---" }, { "entType": "CriteriaCode", "ldhId": "1611900916", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1611900916", "rev": "_jMGLpN6---" }, { "entType": "CriteriaCode", "ldhId": "1611900915", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1611900915", "rev": "_jMGLpFG---" }, { "entType": "CriteriaCode", "ldhId": "1611900912", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1611900912", "rev": "_jMGLpO6---" }, { "entType": "CriteriaCode", "ldhId": "1611900910", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1611900910", "rev": "_jMGLpWG---" }, { "entType": "CriteriaCode", "ldhId": "1611900909", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1611900909", "rev": "_jMGLpQq---" }, { "entType": "CriteriaCode", "ldhId": "1611900906", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1611900906", "rev": "_jMGLpRe---" }, { "entType": "CriteriaCode", "ldhId": "1611900903", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1611900903", "rev": "_jMGLpau---" }, { "entType": "CriteriaCode", "ldhId": "1611900895", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1611900895", "rev": "_jMGLpTa---" }, { "entType": "CriteriaCode", "ldhId": "1611900922", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1611900922", "rev": "_jMGLpLW---" }, { "entType": "CriteriaCode", "ldhId": "1611900920", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1611900920", "rev": "_jMGLpCq---" }, { "entType": "CriteriaCode", "ldhId": "1611900907", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1611900907", "rev": "_jMGLpMK---" }, { "entType": "CriteriaCode", "ldhId": "1611900900", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1611900900", "rev": "_jMGLpJW---" }, { "entType": "CriteriaCode", "ldhId": "1611900898", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1611900898", "rev": "_jMGLpXq---" }, { "entType": "CriteriaCode", "ldhId": "1611900897", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1611900897", "rev": "_jMGLpKW---" }, { "entType": "CriteriaCode", "ldhId": "1611900896", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1611900896", "rev": "_jMGLpYm---" }, { "entType": "CriteriaCode", "ldhId": "1611900919", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1611900919", "rev": "_jMGLpZy---" }, { "entType": "CriteriaCode", "ldhId": "1611900917", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1611900917", "rev": "_jMGLpDm---" }, { "entType": "CriteriaCode", "ldhId": "1611900911", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1611900911", "rev": "_jMGLpPq---" }, { "entType": "CriteriaCode", "ldhId": "1611900908", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1611900908", "rev": "_jMGLpHe---" }, { "entType": "CriteriaCode", "ldhId": "1611900905", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1611900905", "rev": "_jMGLpSW---" }, { "entType": "CriteriaCode", "ldhId": "1611900899", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1611900899", "rev": "_jMGLpW6---" } ], "Disease": [ { "entId": "MONDO:0013144", "entIri": "http://purl.obolibrary.org/obo/MONDO_0013144", "entType": "Disease", "ldhId": "467885201", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/467885201", "rev": "_kZ7xRk2---" } ], "Gene": [ { "entId": "SERPINC1", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:775", "entType": "Gene", "ldhId": "467855776", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/467855776", "rev": "_inf5CFi--a" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "1528074035", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/1528074035", "rev": "_jMGLor6---" } ] }, "ldFor": { "Organization": [ { "entId": "50064", "entIri": "https://clinicalgenome.org/affiliation/50064", "entType": "Organization", "ldhId": "647188070", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/647188070", "rev": "_inf5B_---Q" } ], "SequenceVariantInterpretation": [ { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" } ] }, "ldhId": "1528074022", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1528074022", "modified": "2025-03-06T19:07:14.620Z", "modifier": "leekristy", "rev": "_jUxYyTG--B" }, { "entContent": { "approvedOn": "2025-10-10T18:20:02.676Z", "description": "ClinGen Monogenic Diabetes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines ", "namespace": "GN085", "releaseNotes": "Updating PS2 to clarify when a family history of diabetes prevents this criterion from being applied\n\nChanging PM1 application for variants occurring within the HNF1A/HNF1B and PDX1 (formerly IPF1) binding sites of the promoter.", "shortTitle": "Monogenic Diabetes Specification", "specificationSource": "", "states": [ { "current": false, "event": { "modifiedBy": "tonipollin", "name": "cspec-created", "prevState": "START", "timeStamp": "2022-10-03T19:43:58.274Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "cjodarski", "name": "pilot-rules-submitted", "prevState": "Pilot Rules In Prep", "timeStamp": "2025-09-10T20:40:07.379Z" }, "name": "Pilot Rules Submitted" }, { "current": false, "event": { "modifiedBy": "sharriso", "name": "pilot-rules-approved", "prevState": "Pilot Rules Submitted", "timeStamp": "2025-10-10T16:19:17.508Z" }, "name": "Approved For Release" }, { "current": true, "event": { "modifiedBy": "cjodarski", "name": "cspec-released", "prevState": "Approved For Release", "timeStamp": "2025-10-10T18:20:02.676Z" }, "name": "Released" }, { "current": false, "event": { "modifiedBy": "cjodarski", "name": "cspec-reopened", "prevState": "Released", "timeStamp": "2025-07-24T16:00:41.753Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "tonipollin", "name": "pilot-rules-withdrawn", "prevState": "Pilot Rules Submitted", "timeStamp": "2023-06-25T18:51:29.117Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "mrichardson", "name": "pilot-rules-reviewed", "prevState": "Pilot Rules Submitted", "timeStamp": "2025-06-29T18:45:38.515Z" }, "name": "Pilot Rules In Prep" } ], "tagNameSpaces": [ "085" ], "title": "ClinGen Monogenic Diabetes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for HNF4A Version 4.0.0", "type": "Richards et.al., 2015 - Combining rules", "version": "4.0.0", "versioned": true }, "entId": "GN085", "entType": "SequenceVariantInterpretation", "ld": { "CriteriaCode": [ { "entType": "CriteriaCode", "ldhId": "1533887519", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1533887519", "rev": "_ka7X7VO---" }, { "entType": "CriteriaCode", "ldhId": "1533887512", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1533887512", "rev": "_ka7X7bq---" }, { "entType": "CriteriaCode", "ldhId": "1533887507", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1533887507", "rev": "_ka7X7cy---" }, { "entType": "CriteriaCode", "ldhId": "1533887505", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1533887505", "rev": "_ka7X7Ze---" }, { "entType": "CriteriaCode", "ldhId": "1533887499", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1533887499", "rev": "_ka7X7WC---" }, { "entType": "CriteriaCode", "ldhId": "1533887515", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1533887515", "rev": "_ka7X7Yq---" }, { "entType": "CriteriaCode", "ldhId": "1533887509", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1533887509", "rev": "_ka7X7Vi---" }, { "entType": "CriteriaCode", "ldhId": "1533887504", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1533887504", "rev": "_ka7X7dS---" }, { "entType": "CriteriaCode", "ldhId": "1533887494", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1533887494", "rev": "_ka7X7WW---" }, { "entType": "CriteriaCode", "ldhId": "1533887492", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1533887492", "rev": "_ka7X7du---" }, { "entType": "CriteriaCode", "ldhId": "1533887517", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1533887517", "rev": "_ka7X7b----" }, { "entType": "CriteriaCode", "ldhId": "1533887513", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1533887513", "rev": "_ka7X7XC---" }, { "entType": "CriteriaCode", "ldhId": "1533887508", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1533887508", "rev": "_ka7X7ZG---" }, { "entType": "CriteriaCode", "ldhId": "1533887506", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1533887506", "rev": "_ka7X7dC---" }, { "entType": "CriteriaCode", "ldhId": "1533887502", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1533887502", "rev": "_ka7X7XW---" }, { "entType": "CriteriaCode", "ldhId": "1533887498", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1533887498", "rev": "_ka7X7aK---" }, { "entType": "CriteriaCode", "ldhId": "1533887495", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1533887495", "rev": "_ka7X7Xq---" }, { "entType": "CriteriaCode", "ldhId": "1533887511", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1533887511", "rev": "_ka7X7cC---" }, { "entType": "CriteriaCode", "ldhId": "1533887500", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1533887500", "rev": "_ka7X7Z6---" }, { "entType": "CriteriaCode", "ldhId": "1533887497", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1533887497", "rev": "_ka7X7aa---" }, { "entType": "CriteriaCode", "ldhId": "1533887493", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1533887493", "rev": "_ka7X7YC---" }, { "entType": "CriteriaCode", "ldhId": "1533887518", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1533887518", "rev": "_ka7X7YW---" }, { "entType": "CriteriaCode", "ldhId": "1533887516", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1533887516", "rev": "_ka7X7Wy---" }, { "entType": "CriteriaCode", "ldhId": "1533887514", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1533887514", "rev": "_ka7X7bS---" }, { "entType": "CriteriaCode", "ldhId": "1533887510", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1533887510", "rev": "_ka7X7ci---" }, { "entType": "CriteriaCode", "ldhId": "1533887503", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1533887503", "rev": "_ka7X7Y6---" }, { "entType": "CriteriaCode", "ldhId": "1533887501", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1533887501", "rev": "_ka7X7Vu---" }, { "entType": "CriteriaCode", "ldhId": "1533887496", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1533887496", "rev": "_ka7X7au---" } ], "Disease": [ { "entId": "MONDO:0015967", "entIri": "http://purl.obolibrary.org/obo/MONDO_0015967", "entType": "Disease", "ldhId": "467884025", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/467884025", "rev": "_kZ7x3Hu---" } ], "Gene": [ { "entId": "HNF4A", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5024", "entType": "Gene", "ldhId": "467829602", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/467829602", "rev": "_inf5BYG--u" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "1528338164", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/1528338164", "rev": "_ka7X7O6---" } ] }, "ldFor": { "Organization": [ { "entId": "50016", "entIri": "http://clinicalgenome.org/affiliation/50016", "entType": "Organization", "ldhId": "135637640", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/135637640", "rev": "_inf5B_---A" } ], "SequenceVariantInterpretation": [ { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" } ] }, "ldhId": "1528338151", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1528338151", "modified": "2025-10-10T18:20:03.088Z", "modifier": "cjodarski", "rev": "_ka7X7Ju---" }, { "entContent": { "approvedOn": "2025-10-10T18:22:12.687Z", "description": "ClinGen Monogenic Diabetes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version", "namespace": "GN086", "releaseNotes": "Updating PS2 to clarify when a family history of diabetes prevents the application of this criterion.\n\nUpdating PS3/BS3 Decision Tree for clarity", "shortTitle": "Monogenic Diabetes Specification", "specificationSource": "", "states": [ { "current": false, "event": { "modifiedBy": "tonipollin", "name": "cspec-created", "prevState": "START", "timeStamp": "2022-10-03T19:46:15.093Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "cjodarski", "name": "pilot-rules-submitted", "prevState": "Pilot Rules In Prep", "timeStamp": "2025-10-10T14:47:03.946Z" }, "name": "Pilot Rules Submitted" }, { "current": false, "event": { "modifiedBy": "sharriso", "name": "pilot-rules-approved", "prevState": "Pilot Rules Submitted", "timeStamp": "2025-10-10T16:18:48.123Z" }, "name": "Approved For Release" }, { "current": true, "event": { "modifiedBy": "cjodarski", "name": "cspec-released", "prevState": "Approved For Release", "timeStamp": "2025-10-10T18:22:12.687Z" }, "name": "Released" }, { "current": false, "event": { "modifiedBy": "cjodarski", "name": "cspec-reopened", "prevState": "Released", "timeStamp": "2025-08-29T17:56:06.111Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "mrichardson", "name": "pilot-rules-reviewed", "prevState": "Pilot Rules Submitted", "timeStamp": "2025-07-03T14:59:44.059Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "tonipollin", "name": "pilot-rules-withdrawn", "prevState": "Pilot Rules Submitted", "timeStamp": "2025-04-22T01:13:32.921Z" }, "name": "Pilot Rules In Prep" } ], "tagNameSpaces": [ "086" ], "title": "ClinGen Monogenic Diabetes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for GCK Version 3.1.0", "type": "Richards et.al., 2015 - Combining rules", "version": "3.1.0", "versioned": true }, "entId": "GN086", "entType": "SequenceVariantInterpretation", "ld": { "CriteriaCode": [ { "entType": "CriteriaCode", "ldhId": "1533888306", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1533888306", "rev": "_ka7Z6ZG---" }, { "entType": "CriteriaCode", "ldhId": "1533888299", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1533888299", "rev": "_ka7Z6TK---" }, { "entType": "CriteriaCode", "ldhId": "1533888296", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1533888296", "rev": "_ka7Z6QS---" }, { "entType": "CriteriaCode", "ldhId": "1533888295", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1533888295", "rev": "_ka7Z6Xa---" }, { "entType": "CriteriaCode", "ldhId": "1533888287", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1533888287", "rev": "_ka7Z6Zy---" }, { "entType": "CriteriaCode", "ldhId": "1533888286", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1533888286", "rev": "_ka7Z6aC---" }, { "entType": "CriteriaCode", "ldhId": "1533888283", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1533888283", "rev": "_ka7Z6Ue---" }, { "entType": "CriteriaCode", "ldhId": "1533888297", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1533888297", "rev": "_ka7Z6WC---" }, { "entType": "CriteriaCode", "ldhId": "1533888293", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1533888293", "rev": "_ka7Z6Q2---" }, { "entType": "CriteriaCode", "ldhId": "1533888285", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1533888285", "rev": "_ka7Z6Ru---" }, { "entType": "CriteriaCode", "ldhId": "1533888281", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1533888281", "rev": "_ka7Z6Uu---" }, { "entType": "CriteriaCode", "ldhId": "1533888303", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1533888303", "rev": "_ka7Z6S2---" }, { "entType": "CriteriaCode", "ldhId": "1533888301", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1533888301", "rev": "_ka7Z6XC---" }, { "entType": "CriteriaCode", "ldhId": "1533888291", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1533888291", "rev": "_ka7Z6Tu---" }, { "entType": "CriteriaCode", "ldhId": "1533888279", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1533888279", "rev": "_ka7Z6SO---" }, { "entType": "CriteriaCode", "ldhId": "1533888304", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1533888304", "rev": "_ka7Z6Sq---" }, { "entType": "CriteriaCode", "ldhId": "1533888302", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1533888302", "rev": "_ka7Z6Wu---" }, { "entType": "CriteriaCode", "ldhId": "1533888300", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1533888300", "rev": "_ka7Z6Vy---" }, { "entType": "CriteriaCode", "ldhId": "1533888298", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1533888298", "rev": "_ka7Z6Ti---" }, { "entType": "CriteriaCode", "ldhId": "1533888289", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1533888289", "rev": "_ka7Z6UK---" }, { "entType": "CriteriaCode", "ldhId": "1533888288", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1533888288", "rev": "_ka7Z6Xy--A" }, { "entType": "CriteriaCode", "ldhId": "1533888284", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1533888284", "rev": "_ka7Z6YS---" }, { "entType": "CriteriaCode", "ldhId": "1533888282", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1533888282", "rev": "_ka7Z6Ym---" }, { "entType": "CriteriaCode", "ldhId": "1533888280", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1533888280", "rev": "_ka7Z6VC---" }, { "entType": "CriteriaCode", "ldhId": "1533888305", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1533888305", "rev": "_ka7Z6Va---" }, { "entType": "CriteriaCode", "ldhId": "1533888294", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1533888294", "rev": "_ka7Z6ZW---" }, { "entType": "CriteriaCode", "ldhId": "1533888292", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1533888292", "rev": "_ka7Z6We---" }, { "entType": "CriteriaCode", "ldhId": "1533888290", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1533888290", "rev": "_ka7Z6RS---" } ], "Disease": [ { "entId": "MONDO:0015967", "entIri": "http://purl.obolibrary.org/obo/MONDO_0015967", "entType": "Disease", "ldhId": "467884025", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/467884025", "rev": "_kZ7x3Hu---" } ], "Gene": [ { "entId": "GCK", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4195", "entType": "Gene", "ldhId": "467827496", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/467827496", "rev": "_inf5BNC--l" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "1528339124", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/1528339124", "rev": "_ka7Z6Iu---" } ] }, "ldFor": { "Organization": [ { "entId": "50016", "entIri": "http://clinicalgenome.org/affiliation/50016", "entType": "Organization", "ldhId": "135637640", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/135637640", "rev": "_inf5B_---A" } ], "SequenceVariantInterpretation": [ { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" } ] }, "ldhId": "1528339111", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1528339111", "modified": "2025-10-10T18:22:13.063Z", "modifier": "cjodarski", "rev": "_ka7Z6Dy---" }, { "entContent": { "approvedOn": "2024-12-03T03:17:24.937Z", "description": "These are the ACMG/AMP variant classification specifications developed by the RASopathy VCEP for MRAS.", "namespace": "GN087", "releaseNotes": "These are the ACMG/AMP variant classification specifications developed by the RASopathy VCEP for MRAS. Pilot variants are included in the LZTR1 submission. “Observed in ≥5 probands” removed from PM5 at Moderate strength.", "releasedUnderRevision": true, "shortTitle": "RASopathy Specification", "specificationSource": "", "states": [ { "current": false, "event": { "modifiedBy": "RFWebb", "name": "cspec-created", "prevState": "START", "timeStamp": "2022-10-04T18:05:53.296Z" }, "name": "Classification Rules In Prep" }, { "current": false, "event": { "modifiedBy": "RFWebb", "name": "classified-rules-submitted", "prevState": "Classification Rules In Prep", "timeStamp": "2023-06-08T14:33:57.587Z" }, "name": "Classification Rules Submitted" }, { "current": false, "event": { "modifiedBy": "sharriso", "name": "classified-rules-reviewed", "prevState": "Classification Rules Submitted", "timeStamp": "2022-12-06T16:51:27.119Z" }, "name": "Classification Rules In Prep" }, { "current": false, "event": { "modifiedBy": "RFWebb", "name": "classified-rules-withdrawn", "prevState": "Classification Rules Submitted", "timeStamp": "2023-06-08T14:30:32.836Z" }, "name": "Classification Rules In Prep" }, { "current": false, "event": { "modifiedBy": "sharriso", "name": "classified-rules-approved", "prevState": "Classification Rules Submitted", "timeStamp": "2023-09-06T21:13:31.945Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "RFWebb", "name": "pilot-rules-submitted", "prevState": "Pilot Rules In Prep", "timeStamp": "2024-12-03T02:37:12.316Z" }, "name": "Pilot Rules Submitted" }, { "current": false, "event": { "modifiedBy": "sharriso", "name": "pilot-rules-reviewed", "prevState": "Pilot Rules Submitted", "timeStamp": "2024-06-11T16:20:03.051Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "abyrne", "name": "pilot-rules-approved", "prevState": "Pilot Rules Submitted", "timeStamp": "2024-12-03T03:11:00.637Z" }, "name": "Approved For Release" }, { "current": true, "event": { "modifiedBy": "RFWebb", "name": "cspec-released", "prevState": "Approved For Release", "timeStamp": "2024-12-03T03:17:24.937Z" }, "name": "Released" }, { "current": false, "event": { "modifiedBy": "RFWebb", "name": "cspec-reopened", "prevState": "Released", "timeStamp": "2024-12-03T02:35:10.270Z" }, "name": "Pilot Rules In Prep" } ], "tagNameSpaces": [ "087" ], "title": "ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MRAS Version 1.4.0", "version": "1.4.0", "versioned": true }, "entId": "GN087", "entType": "SequenceVariantInterpretation", "ld": { "CriteriaCode": [ { "created": "2024-08-03T01:09:15.742Z", "entType": "CriteriaCode", "ldhId": "1828324496", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828324496", "rev": "_i2oDz8----" }, { "created": "2024-08-03T01:09:15.742Z", "entType": "CriteriaCode", "ldhId": "1828324494", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828324494", "rev": "_i2oD0B----" }, { "created": "2024-08-03T01:09:15.742Z", "entType": "CriteriaCode", "ldhId": "1828324486", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828324486", "rev": "_i2oDz3K---" }, { "created": "2024-08-03T01:09:15.742Z", "entType": "CriteriaCode", "ldhId": "1828324485", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828324485", "rev": "_i2oDz32---" }, { "created": "2024-08-03T01:09:15.742Z", "entType": "CriteriaCode", "ldhId": "1828324480", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828324480", "rev": "_i2oDz4q---" }, { "created": "2024-08-03T01:09:15.742Z", "entType": "CriteriaCode", "ldhId": "1828324478", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828324478", "rev": "_i2oD0Dm---" }, { "created": "2024-08-03T01:09:15.742Z", "entType": "CriteriaCode", "ldhId": "1828324492", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828324492", "rev": "_i2oD0CG---" }, { "created": "2024-08-03T01:09:15.742Z", "entType": "CriteriaCode", "ldhId": "1828324490", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828324490", "rev": "_i2oDz06---" }, { "created": "2024-08-03T01:09:15.742Z", "entType": "CriteriaCode", "ldhId": "1828324489", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828324489", "rev": "_i2oDz9a---" }, { "created": "2024-08-03T01:09:15.742Z", "entType": "CriteriaCode", "ldhId": "1828324482", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828324482", "rev": "_i2oDztS---" }, { "created": "2024-08-03T01:09:15.742Z", "entType": "CriteriaCode", "ldhId": "1828324501", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828324501", "rev": "_i2oD0AG---" }, { "created": "2024-08-03T01:09:15.742Z", "entType": "CriteriaCode", "ldhId": "1828324493", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828324493", "rev": "_i2oDz8e---" }, { "created": "2024-08-03T01:09:15.742Z", "entType": "CriteriaCode", "ldhId": "1828324491", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828324491", "rev": "_i2oDzqm---" }, { "created": "2024-08-03T01:09:15.742Z", "entType": "CriteriaCode", "ldhId": "1828324487", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828324487", "rev": "_i2oDzrm---" }, { "created": "2024-08-03T01:09:15.742Z", "entType": "CriteriaCode", "ldhId": "1828324475", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828324475", "rev": "_i2oDzuG---" }, { "created": "2024-08-03T01:09:15.742Z", "entType": "CriteriaCode", "ldhId": "1828324474", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828324474", "rev": "_i2oDzve---" }, { "created": "2024-08-03T01:09:15.742Z", "entType": "CriteriaCode", "ldhId": "1828324498", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828324498", "rev": "_i2oDz6e---" }, { "created": "2024-08-03T01:09:15.742Z", "entType": "CriteriaCode", "ldhId": "1828324495", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828324495", "rev": "_i2oDzpe---" }, { "created": "2024-08-03T01:09:15.742Z", "entType": "CriteriaCode", "ldhId": "1828324488", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828324488", "rev": "_i2oDz2----" }, { "created": "2024-08-03T01:09:15.742Z", "entType": "CriteriaCode", "ldhId": "1828324484", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828324484", "rev": "_i2oD0Cu---" }, { "created": "2024-08-03T01:09:15.742Z", "entType": "CriteriaCode", "ldhId": "1828324481", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828324481", "rev": "_i2oDzxy---" }, { "created": "2024-08-03T01:09:15.742Z", "entType": "CriteriaCode", "ldhId": "1828324476", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828324476", "rev": "_i2oD0Ee---" }, { "created": "2024-08-03T01:09:15.742Z", "entType": "CriteriaCode", "ldhId": "1828324500", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828324500", "rev": "_i2oDzzG---" }, { "created": "2024-08-03T01:09:15.742Z", "entType": "CriteriaCode", "ldhId": "1828324499", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828324499", "rev": "_i2oDzzu---" }, { "created": "2024-08-03T01:09:15.742Z", "entType": "CriteriaCode", "ldhId": "1828324497", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828324497", "rev": "_i2oDzwO---" }, { "created": "2024-08-03T01:09:15.742Z", "entType": "CriteriaCode", "ldhId": "1828324483", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828324483", "rev": "_i2oD0-u---" }, { "created": "2024-08-03T01:09:15.742Z", "entType": "CriteriaCode", "ldhId": "1828324479", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828324479", "rev": "_i2oD0_O---" }, { "created": "2024-08-03T01:09:15.742Z", "entType": "CriteriaCode", "ldhId": "1828324477", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828324477", "rev": "_i2oDz52---" } ], "Disease": [ { "entId": "MONDO:0021060", "entIri": "http://purl.obolibrary.org/obo/MONDO_0021060", "entType": "Disease", "ldhId": "135642042", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642042", "rev": "_iysfmna---" }, { "entId": "MONDO:0018997", "entIri": "http://purl.obolibrary.org/obo/MONDO_0018997", "entType": "Disease", "ldhId": "135642024", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642024", "rev": "_iyse0Zq---" }, { "entId": "MONDO:0021060", "entIri": "http://purl.obolibrary.org/obo/MONDO_0021060", "entType": "Disease", "ldhId": "135642022", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642022", "rev": "_kZ7y8AC---" }, { "entId": "MONDO:0021060", "entIri": "http://purl.obolibrary.org/obo/MONDO_0021060", "entType": "Disease", "ldhId": "135642020", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642020", "rev": "_inf5Bjm--c" } ], "Gene": [ { "entId": "MRAS", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7227", "entType": "Gene", "ldhId": "467839815", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/467839815", "rev": "_inf5Br2--O" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "1528438503", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/1528438503", "rev": "_i2oDzSK---" } ] }, "ldFor": { "Organization": [ { "entId": "50021", "entIri": "http://clinicalgenome.org/affiliation/50021", "entType": "Organization", "ldhId": "135637642", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/135637642", "rev": "_inf5B_G--D" } ], "SequenceVariantInterpretation": [ { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" } ] }, "ldhId": "1528438490", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1528438490", "modified": "2024-12-03T03:17:26.607Z", "modifier": "RFWebb", "rev": "_i2oDz-6---" }, { "entContent": { "approvedOn": "2026-01-20T16:25:37.530Z", "description": "RMRP specifications", "namespace": "GN088", "releaseNotes": "* Attached RMRP Corrections 1.6.26\n* Updated PM1 Strong Specifications\n* Attached document: \"VCEP Comments: Updates to PM1 10/23/25\"\n* Added PM3 Minor Amendments document\n* Attached document: “RMRP Corrections 12.12.2025”", "releasedUnderRevision": true, "shortTitle": "Severe Combined Immunodeficiency Disease Specification", "specificationSource": "", "states": [ { "current": false, "event": { "name": "cspec-created", "prevState": "START", "timeStamp": "2022-10-12T14:52:32.692Z" }, "name": "Classification Rules In Prep" }, { "current": false, "event": { "name": "classified-rules-submitted", "prevState": "Classification Rules In Prep", "timeStamp": "2023-09-13T17:34:40.911Z" }, "name": "Classification Rules Submitted" }, { "current": false, "event": { "name": "classified-rules-reviewed", "prevState": "Classification Rules Submitted", "timeStamp": "2023-07-20T17:44:14.855Z" }, "name": "Classification Rules In Prep" }, { "current": false, "event": { "name": "classified-rules-approved", "prevState": "Classification Rules Submitted", "timeStamp": "2023-10-27T20:45:39.139Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "name": "pilot-rules-submitted", "prevState": "Pilot Rules In Prep", "timeStamp": "2026-04-01T23:42:50.811Z" }, "name": "Pilot Rules Submitted" }, { "current": false, "event": { "name": "pilot-rules-reviewed", "prevState": "Pilot Rules Submitted", "timeStamp": "2026-03-05T12:59:55.664Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "name": "pilot-rules-withdrawn", "prevState": "Pilot Rules Submitted", "timeStamp": "2026-02-11T20:42:06.013Z" }, "name": "Pilot Rules In Prep" }, { "current": true, "event": { "name": "pilot-rules-approved", "prevState": "Pilot Rules Submitted", "timeStamp": "2026-04-28T12:35:19.356Z" }, "name": "Approved For Release" }, { "current": false, "event": { "name": "cspec-released", "prevState": "Approved For Release", "timeStamp": "2026-01-20T16:25:37.530Z" }, "name": "Released" }, { "current": false, "event": { "name": "cspec-reopened", "prevState": "Released", "timeStamp": "2026-01-27T17:51:15.449Z" }, "name": "Pilot Rules In Prep" } ], "tagNameSpaces": [ "088" ], "title": "ClinGen Severe Combined Immunodeficiency Disease Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for RMRP Version 1.2.0", "type": "Richards et.al., 2015 - Combining rules", "version": "1.2.0", "versioned": true }, "entId": "GN088", "entType": "SequenceVariantInterpretation", "ld": { "CriteriaCode": [ { "created": "2025-05-14T19:02:27.498Z", "entType": "CriteriaCode", "ldhId": "295407218", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/295407218", "rev": "_k7u31Wq---" }, { "created": "2025-05-14T19:02:27.498Z", "entType": "CriteriaCode", "ldhId": "295407212", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/295407212", "rev": "_k7u31T6---" }, { "created": "2025-05-14T19:02:27.498Z", "entType": "CriteriaCode", "ldhId": "295407209", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/295407209", "rev": "_k7u31T----" }, { "created": "2025-05-14T19:02:27.498Z", "entType": "CriteriaCode", "ldhId": "295407205", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/295407205", "rev": "_k7u31L6---" }, { "created": "2025-05-14T19:02:27.498Z", "entType": "CriteriaCode", "ldhId": "295407196", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/295407196", "rev": "_k7u31Pi---" }, { "created": "2025-05-14T19:02:27.498Z", "entType": "CriteriaCode", "ldhId": "295407195", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/295407195", "rev": "_k7u31PG---" }, { "created": "2025-05-14T19:02:27.498Z", "entType": "CriteriaCode", "ldhId": "295407194", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/295407194", "rev": "_k7u31Oe---" }, { "created": "2025-05-14T19:02:27.498Z", "entType": "CriteriaCode", "ldhId": "295407192", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/295407192", "rev": "_k7u31Na---" }, { "created": "2025-05-14T19:02:27.498Z", "entType": "CriteriaCode", "ldhId": "295407217", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/295407217", "rev": "_k7u31WO---" }, { "created": "2025-05-14T19:02:27.498Z", "entType": "CriteriaCode", "ldhId": "295407213", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/295407213", "rev": "_k7u31US---" }, { "created": "2025-05-14T19:02:27.498Z", "entType": "CriteriaCode", "ldhId": "295407210", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/295407210", "rev": "_k7u31TW---" }, { "created": "2025-05-14T19:02:27.498Z", "entType": "CriteriaCode", "ldhId": "295407206", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/295407206", "rev": "_k7u31Mu---" }, { "created": "2025-05-14T19:02:27.498Z", "entType": "CriteriaCode", "ldhId": "295407203", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/295407203", "rev": "_k7u31KG---" }, { "created": "2025-05-14T19:02:27.498Z", "entType": "CriteriaCode", "ldhId": "295407199", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/295407199", "rev": "_k7u31Qy---" }, { "created": "2025-05-14T19:02:27.498Z", "entType": "CriteriaCode", "ldhId": "295407220", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/295407220", "rev": "_k7u31Xm---" }, { "created": "2025-05-14T19:02:27.498Z", "entType": "CriteriaCode", "ldhId": "295407219", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/295407219", "rev": "_k7u31XG---" }, { "created": "2025-05-14T19:02:27.498Z", "entType": "CriteriaCode", "ldhId": "295407208", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/295407208", "rev": "_k7u31SW---" }, { "created": "2025-05-14T19:02:27.498Z", "entType": "CriteriaCode", "ldhId": "295407198", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/295407198", "rev": "_k7u31Qa---" }, { "created": "2025-05-14T19:02:27.498Z", "entType": "CriteriaCode", "ldhId": "295407215", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/295407215", "rev": "_k7u31VG---" }, { "created": "2025-05-14T19:02:27.498Z", "entType": "CriteriaCode", "ldhId": "295407214", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/295407214", "rev": "_k7u31Uu---" }, { "created": "2025-05-14T19:02:27.498Z", "entType": "CriteriaCode", "ldhId": "295407202", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/295407202", "rev": "_k7u31JC---" }, { "created": "2025-05-14T19:02:27.498Z", "entType": "CriteriaCode", "ldhId": "295407200", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/295407200", "rev": "_k7u31RS---" }, { "created": "2025-05-14T19:02:27.498Z", "entType": "CriteriaCode", "ldhId": "295407197", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/295407197", "rev": "_k7u31QC---" }, { "created": "2025-05-14T19:02:27.498Z", "entType": "CriteriaCode", "ldhId": "295407216", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/295407216", "rev": "_k7u31Vq---" }, { "created": "2025-05-14T19:02:27.498Z", "entType": "CriteriaCode", "ldhId": "295407207", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/295407207", "rev": "_k7u31R6---" }, { "created": "2025-05-14T19:02:27.498Z", "entType": "CriteriaCode", "ldhId": "295407204", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/295407204", "rev": "_k7u31LK---" }, { "created": "2025-05-14T19:02:27.498Z", "entType": "CriteriaCode", "ldhId": "295407201", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/295407201", "rev": "_k7u31IO---" }, { "created": "2025-05-14T19:02:27.498Z", "entType": "CriteriaCode", "ldhId": "295407193", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/295407193", "rev": "_k7u31O----" } ], "Disease": [ { "entId": "MONDO:0009595", "entIri": "http://purl.obolibrary.org/obo/MONDO_0009595", "entType": "Disease", "ldhId": "467873086", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/467873086", "rev": "_kZ7whUW---" } ], "Gene": [ { "entId": "RMRP", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10031", "entType": "Gene", "ldhId": "467848363", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/467848363", "rev": "_inf5B8---Z" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "1529230108", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/1529230108", "rev": "_k7u31AS---" } ] }, "ldFor": { "Organization": [ { "entId": "50091", "entIri": "http://clinicalgenome.org/affiliation/50091", "entType": "Organization", "ldhId": "639508898", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/639508898", "rev": "_inf5B_G--e" } ], "SequenceVariantInterpretation": [ { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" } ] }, "ldhId": "1529230095", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1529230095", "modified": "2026-04-28T12:35:19.660Z", "modifier": "tsneddon", "rev": "_lbOUMe----" }, { "entContent": { "approvedOn": "2023-11-24T13:46:56.766Z", "description": "The following criteria are for classic or attenuated familial adenomatous polyposis only and does not apply to Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS, MONDO:0017790).\nThe preferred transcript for coding, intronic and promoter 1A variants is NM_000038.6 (MANE transcript). The NM_001127510.2 transcript differs from NM_000038.6 in the number of \"non-coding\" exons in the 5' region, which results in different exon numbering (in NM_000038.6 there is only one non-coding exon, in NM_001127510.2 there is one additional non-coding exon and one non-coding exon overlapping with NM_000038.6; the 15 coding exons are the same). For the promoter 1B deletion the preferred transcript is NM_001127511.3, which has an alternative coding exon 1. The LRG_130 summarizes all three “additional” exons of the previously mentioned transcripts, resulting in 18 exons). To standardize, variants in this document are described in HGVS nomenclature according to their positions in the NM_000038.6 transcript unless otherwise specified. Numbered exons in this document refers to exons 1-16 in the NM_000038.6transcript. Refer to Supplementary Table 1 for exon number conversions. \nIt is important to note that these criteria are not developed for low/moderate penetrant variants (e. g. c.3920T>A p.(Ile1307Lys) and c.3949G>C p.(Glu1317Gln)).", "namespace": "GN089", "releaseNotes": "* Correction of some inaccuracies in the Rules for Combining Criteria.\n* Addition of some relevant instructions out of the supplementary material\n* Change in Fig. 1A: Update of the possible pathways for “G to non-G changes”\n* Change in Fig. 1B: Transfer of splice variants c.136-1G>A,C,T; c.136-2A>C,G,T; c.220+1G>A,C,T and c.220+2T>A,C,G from List E to List A and transfer of c.220G>A,C,T  from List E to List B based on RNA and phenotype data\n* Update of the supplementary material file.", "releasedUnderRevision": true, "shortTitle": "InSiGHT Hereditary Colorectal Cancer/Polyposis Specification", "specificationSource": "", "states": [ { "current": false, "event": { "modifiedBy": "xiaoyuyin", "name": "cspec-created", "prevState": "START", "timeStamp": "2022-10-13T04:32:42.802Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "ispier", "name": "pilot-rules-submitted", "prevState": "Pilot Rules In Prep", "timeStamp": "2023-10-20T13:21:03.456Z" }, "name": "Pilot Rules Submitted" }, { "current": false, "event": { "modifiedBy": "ispier", "name": "pilot-rules-withdrawn", "prevState": "Pilot Rules Submitted", "timeStamp": "2023-10-20T13:04:16.330Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "sharriso", "name": "pilot-rules-approved", "prevState": "Pilot Rules Submitted", "timeStamp": "2023-11-21T20:45:32.523Z" }, "name": "Approved For Release" }, { "current": true, "event": { "modifiedBy": "ispier", "name": "cspec-released", "prevState": "Approved For Release", "timeStamp": "2023-11-24T13:46:56.766Z" }, "name": "Released" }, { "current": false, "event": { "modifiedBy": "ispier", "name": "cspec-reopened", "prevState": "Released", "timeStamp": "2023-09-14T10:53:29.300Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "sharriso", "name": "pilot-rules-reviewed", "prevState": "Pilot Rules Submitted", "timeStamp": "2023-10-17T17:10:15.332Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "ispier", "name": "pilot-rules-withdrawn", "prevState": "Pilot Rules Submitted", "timeStamp": "2023-10-20T13:04:16.330Z" }, "name": "Pilot Rules In Prep" } ], "tagNameSpaces": [ "089" ], "title": "ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for APC Version 2.1.0", "version": "2.1.0", "versioned": true }, "entId": "GN089", "entType": "SequenceVariantInterpretation", "ld": { "CriteriaCode": [ { "entType": "CriteriaCode", "ldhId": "1553527150", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1553527150", "rev": "_inf5AqK--K" }, { "entType": "CriteriaCode", "ldhId": "1553527148", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1553527148", "rev": "_inf5Apy--_" }, { "entType": "CriteriaCode", "ldhId": "1553527141", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1553527141", "rev": "_inf5AqK--E" }, { "entType": "CriteriaCode", "ldhId": "1553527140", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1553527140", "rev": "_inf5Apu--p" }, { "entType": "CriteriaCode", "ldhId": "1553527137", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1553527137", "rev": "_inf5Apu--o" }, { "entType": "CriteriaCode", "ldhId": "1553527135", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1553527135", "rev": "_inf5AqK--I" }, { "entType": "CriteriaCode", "ldhId": "1553527134", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1553527134", "rev": "_inf5AqK--H" }, { "entType": "CriteriaCode", "ldhId": "1553527159", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1553527159", "rev": "_inf5Apy--C" }, { "entType": "CriteriaCode", "ldhId": "1553527157", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1553527157", "rev": "_inf5AqC--H" }, { "entType": "CriteriaCode", "ldhId": "1553527152", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1553527152", "rev": "_inf5Ap2--g" }, { "entType": "CriteriaCode", "ldhId": "1553527147", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1553527147", "rev": "_inf5Ap2--f" }, { "entType": "CriteriaCode", "ldhId": "1553527138", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1553527138", "rev": "_inf5AqK--D" }, { "entType": "CriteriaCode", "ldhId": "1553527149", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1553527149", "rev": "_inf5Apy--A" }, { "entType": "CriteriaCode", "ldhId": "1553527142", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1553527142", "rev": "_inf5AqC--F" }, { "entType": "CriteriaCode", "ldhId": "1553527136", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1553527136", "rev": "_inf5AqC--E" }, { "entType": "CriteriaCode", "ldhId": "1553527158", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1553527158", "rev": "_inf5Apy--B" }, { "entType": "CriteriaCode", "ldhId": "1553527153", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1553527153", "rev": "_inf5AqK--J" }, { "entType": "CriteriaCode", "ldhId": "1553527144", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1553527144", "rev": "_inf5AqC--G" }, { "entType": "CriteriaCode", "ldhId": "1553527143", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1553527143", "rev": "_inf5Apy---" }, { "entType": "CriteriaCode", "ldhId": "1553527160", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1553527160", "rev": "_inf5Apy--D" }, { "entType": "CriteriaCode", "ldhId": "1553527156", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1553527156", "rev": "_inf5AqK--L" }, { "entType": "CriteriaCode", "ldhId": "1553527155", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1553527155", "rev": "_inf5Ap2--i" }, { "entType": "CriteriaCode", "ldhId": "1553527154", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1553527154", "rev": "_inf5Ap2--h" }, { "entType": "CriteriaCode", "ldhId": "1553527151", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1553527151", "rev": "_inf5AqK--I" }, { "entType": "CriteriaCode", "ldhId": "1553527146", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1553527146", "rev": "_inf5AqK--H" }, { "entType": "CriteriaCode", "ldhId": "1553527145", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1553527145", "rev": "_inf5AqK--F" }, { "entType": "CriteriaCode", "ldhId": "1553527139", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1553527139", "rev": "_inf5AqK--J" }, { "entType": "CriteriaCode", "ldhId": "1553527133", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1553527133", "rev": "_inf5AqK--C" } ], "Disease": [ { "entId": "MONDO:0021056", "entIri": "http://purl.obolibrary.org/obo/MONDO_0021056", "entType": "Disease", "ldhId": "467886956", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/467886956", "rev": "_kZ7y79e---" } ], "Gene": [ { "entId": "APC", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:583", "entType": "Gene", "ldhId": "467817382", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/467817382", "rev": "_inf5A8q--Q" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "1529292804", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/1529292804", "rev": "_inf5BHa--W" } ] }, "ldFor": { "Organization": [ { "entId": "50099", "entIri": "http://clinicalgenome.org/affiliation/50099", "entType": "Organization", "ldhId": "639508901", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/639508901", "rev": "_inf5B_G--b" } ], "SequenceVariantInterpretation": [ { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" } ] }, "ldhId": "1529292791", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1529292791", "modified": "2023-11-24T13:46:57.319Z", "modifier": "ispier", "rev": "_inf5BXO--F" }, { "entContent": { "approvedOn": "2024-07-09T13:43:00.828Z", "description": "VWD type 2N rule specifications", "namespace": "GN090", "releaseNotes": "", "shortTitle": "von Willebrand Disease Specification", "specificationSource": "", "states": [ { "current": false, "event": { "modifiedBy": "leekristy", "name": "cspec-created", "prevState": "START", "timeStamp": "2022-10-13T21:04:07.328Z" }, "name": "Classification Rules In Prep" }, { "current": false, "event": { "modifiedBy": "leekristy", "name": "classified-rules-submitted", "prevState": "Classification Rules In Prep", "timeStamp": "2022-12-13T13:31:56.852Z" }, "name": "Classification Rules Submitted" }, { "current": false, "event": { "modifiedBy": "strande@email.unc.edu", "name": "classified-rules-reviewed", "prevState": "Classification Rules Submitted", "timeStamp": "2022-12-09T20:56:32.630Z" }, "name": "Classification Rules In Prep" }, { "current": false, "event": { "modifiedBy": "strande@email.unc.edu", "name": "classified-rules-approved", "prevState": "Classification Rules Submitted", "timeStamp": "2023-01-06T15:51:23.401Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "leekristy", "name": "pilot-rules-submitted", "prevState": "Pilot Rules In Prep", "timeStamp": "2024-02-29T16:02:53.417Z" }, "name": "Pilot Rules Submitted" }, { "current": false, "event": { "modifiedBy": "leekristy", "name": "pilot-rules-withdrawn", "prevState": "Pilot Rules Submitted", "timeStamp": "2023-12-15T19:23:59.886Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "strande@email.unc.edu", "name": "pilot-rules-reviewed", "prevState": "Pilot Rules Submitted", "timeStamp": "2024-02-05T23:04:00.855Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "strande@email.unc.edu", "name": "pilot-rules-approved", "prevState": "Pilot Rules Submitted", "timeStamp": "2024-06-07T16:33:30.172Z" }, "name": "Approved For Release" }, { "current": true, "event": { "modifiedBy": "leekristy", "name": "cspec-released", "prevState": "Approved For Release", "timeStamp": "2024-07-09T13:43:00.828Z" }, "name": "Released" } ], "tagNameSpaces": [ "090" ], "title": "ClinGen von Willebrand Disease Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for VWF Version 1.0.0", "version": "1.0.0", "versioned": true }, "entId": "GN090", "entType": "SequenceVariantInterpretation", "ld": { "CriteriaCode": [ { "created": "2024-07-09T13:43:01.455Z", "entType": "CriteriaCode", "ldhId": "1807988620", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1807988620", "rev": "_inf5Atm--U" }, { "created": "2024-07-09T13:43:01.455Z", "entType": "CriteriaCode", "ldhId": "1807988611", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1807988611", "rev": "_inf5Ate-_S" }, { "created": "2024-07-09T13:43:01.455Z", "entType": "CriteriaCode", "ldhId": "1807988610", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1807988610", "rev": "_inf5Atm--S" }, { "created": "2024-07-09T13:43:01.455Z", "entType": "CriteriaCode", "ldhId": "1807988604", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1807988604", "rev": "_inf5Atm--Q" }, { "created": "2024-07-09T13:43:01.455Z", "entType": "CriteriaCode", "ldhId": "1807988624", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1807988624", "rev": "_inf5Atq--W" }, { "created": "2024-07-09T13:43:01.455Z", "entType": "CriteriaCode", "ldhId": "1807988621", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1807988621", "rev": "_inf5Ati--G" }, { "created": "2024-07-09T13:43:01.455Z", "entType": "CriteriaCode", "ldhId": "1807988619", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1807988619", "rev": "_inf5Atm--T" }, { "created": "2024-07-09T13:43:01.455Z", "entType": "CriteriaCode", "ldhId": "1807988615", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1807988615", "rev": "_inf5Atq--U" }, { "created": "2024-07-09T13:43:01.455Z", "entType": "CriteriaCode", "ldhId": "1807988602", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1807988602", "rev": "_inf5Ate-_M" }, { "created": "2024-07-09T13:43:01.455Z", "entType": "CriteriaCode", "ldhId": "1807988627", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1807988627", "rev": "_inf5Ati--J" }, { "created": "2024-07-09T13:43:01.455Z", "entType": "CriteriaCode", "ldhId": "1807988617", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1807988617", "rev": "_inf5Ati--D" }, { "created": "2024-07-09T13:43:01.455Z", "entType": "CriteriaCode", "ldhId": "1807988616", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1807988616", "rev": "_inf5Ati--B" }, { "created": "2024-07-09T13:43:01.455Z", "entType": "CriteriaCode", "ldhId": "1807988613", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1807988613", "rev": "_inf5Ati--_" }, { "created": "2024-07-09T13:43:01.455Z", "entType": "CriteriaCode", "ldhId": "1807988609", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1807988609", "rev": "_inf5Ate-_Q" }, { "created": "2024-07-09T13:43:01.455Z", "entType": "CriteriaCode", "ldhId": "1807988629", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1807988629", "rev": "_inf5Ati-_A" }, { "created": "2024-07-09T13:43:01.455Z", "entType": "CriteriaCode", "ldhId": "1807988628", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1807988628", "rev": "_inf5Ati--L" }, { "created": "2024-07-09T13:43:01.455Z", "entType": "CriteriaCode", "ldhId": "1807988626", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1807988626", "rev": "_inf5Atq--X" }, { "created": "2024-07-09T13:43:01.455Z", "entType": "CriteriaCode", "ldhId": "1807988625", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1807988625", "rev": "_inf5Ata--z" }, { "created": "2024-07-09T13:43:01.455Z", "entType": "CriteriaCode", "ldhId": "1807988623", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1807988623", "rev": "_inf5Ati--I" }, { "created": "2024-07-09T13:43:01.455Z", "entType": "CriteriaCode", "ldhId": "1807988614", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1807988614", "rev": "_inf5Ati-_-" }, { "created": "2024-07-09T13:43:01.455Z", "entType": "CriteriaCode", "ldhId": "1807988612", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1807988612", "rev": "_inf5Ata--x" }, { "created": "2024-07-09T13:43:01.455Z", "entType": "CriteriaCode", "ldhId": "1807988607", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1807988607", "rev": "_inf5Ati--8" }, { "created": "2024-07-09T13:43:01.455Z", "entType": "CriteriaCode", "ldhId": "1807988622", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1807988622", "rev": "_inf5Ati-__" }, { "created": "2024-07-09T13:43:01.455Z", "entType": "CriteriaCode", "ldhId": "1807988618", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1807988618", "rev": "_inf5Atq--V" }, { "created": "2024-07-09T13:43:01.455Z", "entType": "CriteriaCode", "ldhId": "1807988608", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1807988608", "rev": "_inf5Ata--v" }, { "created": "2024-07-09T13:43:01.455Z", "entType": "CriteriaCode", "ldhId": "1807988606", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1807988606", "rev": "_inf5Ate-_O" }, { "created": "2024-07-09T13:43:01.455Z", "entType": "CriteriaCode", "ldhId": "1807988605", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1807988605", "rev": "_inf5Atm--R" }, { "created": "2024-07-09T13:43:01.455Z", "entType": "CriteriaCode", "ldhId": "1807988603", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1807988603", "rev": "_inf5Atm--P" } ], "Disease": [ { "entId": "MONDO:0015631", "entIri": "http://purl.obolibrary.org/obo/MONDO_0015631", "entType": "Disease", "ldhId": "467885573", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/467885573", "rev": "_kZ7xzGC---" } ], "Gene": [ { "entId": "VWF", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12726", "entType": "Gene", "ldhId": "467863817", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/467863817", "rev": "_inf5COC--f" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "1529372875", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/1529372875", "rev": "_inf5BHS--H" } ] }, "ldFor": { "Organization": [ { "entId": "50051", "entIri": "http://clinicalgenome.org/affiliation/50051", "entType": "Organization", "ldhId": "639508886", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/639508886", "rev": "_inf5B_---U" } ], "SequenceVariantInterpretation": [ { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" } ] }, "ldhId": "1529372862", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1529372862", "modified": "2024-07-09T13:43:01.269Z", "modifier": "leekristy", "rev": "_inf5BXm--E" }, { "entContent": { "approvedOn": "2026-01-23T15:06:25.630Z", "description": "PP3: Updated the website for MutPred-InDel from http://mutpredindel.cs.indiana.edu/ (page no longer exists) to current webpage - https://mutpred2.mutdb.org/mutpredindel/\nPP4: Added dermatan sulfate as a biomarker that may be reduced upon enzyme replacement therapy and bone marrow transplant, as previously reported (PMID: 20162367, 22991166).", "namespace": "GN091", "releaseNotes": "PP4: Updated to remove the requirement for detailed description of clinical features for individuals that are part of a large cohort with a diagnosis of MPS I, when reported by a group with experience and expertise in MPS disorders. Note that an additional requirement must still be met, such as reduced IDUA activity, in order to apply PP4. \nUpdate to BS2: Minor update in wording for this criterion.", "shortTitle": "Lysosomal Storage Disorders Specification", "specificationSource": "", "states": [ { "current": false, "event": { "modifiedBy": "jennifer.goldstein@unc.edu", "name": "cspec-created", "prevState": "START", "timeStamp": "2022-10-17T15:07:17.321Z" }, "name": "Classification Rules In Prep" }, { "current": false, "event": { "modifiedBy": "jennifer.goldstein@unc.edu", "name": "classified-rules-submitted", "prevState": "Classification Rules In Prep", "timeStamp": "2023-06-19T12:29:38.431Z" }, "name": "Classification Rules Submitted" }, { "current": false, "event": { "modifiedBy": "abyrne", "name": "classified-rules-reviewed", "prevState": "Classification Rules Submitted", "timeStamp": "2023-05-31T16:50:23.475Z" }, "name": "Classification Rules In Prep" }, { "current": false, "event": { "modifiedBy": "abyrne", "name": "classified-rules-approved", "prevState": "Classification Rules Submitted", "timeStamp": "2023-06-28T20:02:05.227Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "jennifer.goldstein@unc.edu", "name": "pilot-rules-submitted", "prevState": "Pilot Rules In Prep", "timeStamp": "2025-12-29T17:27:49.454Z" }, "name": "Pilot Rules Submitted" }, { "current": false, "event": { "modifiedBy": "abyrne", "name": "pilot-rules-reviewed", "prevState": "Pilot Rules Submitted", "timeStamp": "2024-12-04T09:02:12.627Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "jennifer.goldstein@unc.edu", "name": "pilot-rules-withdrawn", "prevState": "Pilot Rules Submitted", "timeStamp": "2024-11-04T14:13:26.598Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "proberts", "name": "pilot-rules-approved", "prevState": "Pilot Rules Submitted", "timeStamp": "2026-01-20T14:46:14.180Z" }, "name": "Approved For Release" }, { "current": true, "event": { "modifiedBy": "jennifer.goldstein@unc.edu", "name": "cspec-released", "prevState": "Approved For Release", "timeStamp": "2026-01-23T15:06:25.630Z" }, "name": "Released" }, { "current": false, "event": { "modifiedBy": "jennifer.goldstein@unc.edu", "name": "cspec-reopened", "prevState": "Released", "timeStamp": "2025-12-29T16:57:04.682Z" }, "name": "Pilot Rules In Prep" } ], "tagNameSpaces": [ "091" ], "title": "ClinGen Lysosomal Diseases Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for IDUA Version 1.2.0", "type": "Richards et.al., 2015 - Combining rules", "version": "1.2.0", "versioned": true }, "entId": "GN091", "entType": "SequenceVariantInterpretation", "ld": { "CriteriaCode": [ { "created": "2024-12-05T14:23:09.998Z", "entType": "CriteriaCode", "ldhId": "87611487", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/87611487", "rev": "_k8riZ6G---" }, { "created": "2024-12-05T14:23:09.998Z", "entType": "CriteriaCode", "ldhId": "87611485", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/87611485", "rev": "_k8riZ5----" }, { "created": "2024-12-05T14:23:09.998Z", "entType": "CriteriaCode", "ldhId": "87611478", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/87611478", "rev": "_k8riZ0u---" }, { "created": "2024-12-05T14:23:09.998Z", "entType": "CriteriaCode", "ldhId": "87611458", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/87611458", "rev": "_k8riZqa---" }, { "created": "2024-12-05T14:23:09.998Z", "entType": "CriteriaCode", "ldhId": "87611453", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/87611453", "rev": "_k8riZ0O---" }, { "created": "2024-12-05T14:23:09.998Z", "entType": "CriteriaCode", "ldhId": "87611490", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/87611490", "rev": "_k8riZ7u---" }, { "created": "2024-12-05T14:23:09.998Z", "entType": "CriteriaCode", "ldhId": "87611489", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/87611489", "rev": "_k8riZ7C---" }, { "created": "2024-12-05T14:23:09.998Z", "entType": "CriteriaCode", "ldhId": "87611483", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/87611483", "rev": "_k8riZ3i---" }, { "created": "2024-12-05T14:23:09.998Z", "entType": "CriteriaCode", "ldhId": "87611477", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/87611477", "rev": "_k8riZwG---" }, { "created": "2024-12-05T14:23:09.998Z", "entType": "CriteriaCode", "ldhId": "87611473", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/87611473", "rev": "_k8riZvG---" }, { "created": "2024-12-05T14:23:09.998Z", "entType": "CriteriaCode", "ldhId": "87611459", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/87611459", "rev": "_k8riZs----" }, { "created": "2024-12-05T14:23:09.998Z", "entType": "CriteriaCode", "ldhId": "87611488", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/87611488", "rev": "_k8riZ6m---" }, { "created": "2024-12-05T14:23:09.998Z", "entType": "CriteriaCode", "ldhId": "87611486", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/87611486", "rev": "_k8riZ5q---" }, { "created": "2024-12-05T14:23:09.998Z", "entType": "CriteriaCode", "ldhId": "87611481", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/87611481", "rev": "_k8riZ2W---" }, { "created": "2024-12-05T14:23:09.998Z", "entType": "CriteriaCode", "ldhId": "87611480", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/87611480", "rev": "_k8riZ1m---" }, { "created": "2024-12-05T14:23:09.998Z", "entType": "CriteriaCode", "ldhId": "87611479", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/87611479", "rev": "_k8riZ1K---" }, { "created": "2024-12-05T14:23:09.998Z", "entType": "CriteriaCode", "ldhId": "87611470", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/87611470", "rev": "_k8riZyS---" }, { "created": "2024-12-05T14:23:09.998Z", "entType": "CriteriaCode", "ldhId": "87611468", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/87611468", "rev": "_k8riZw6---" }, { "created": "2024-12-05T14:23:09.998Z", "entType": "CriteriaCode", "ldhId": "87611467", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/87611467", "rev": "_k8riZti---" }, { "created": "2024-12-05T14:23:09.998Z", "entType": "CriteriaCode", "ldhId": "87611451", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/87611451", "rev": "_k8riZzK---" }, { "created": "2024-12-05T14:23:09.998Z", "entType": "CriteriaCode", "ldhId": "87611484", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/87611484", "rev": "_k8riZ4a---" }, { "created": "2024-12-05T14:23:09.998Z", "entType": "CriteriaCode", "ldhId": "87611482", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/87611482", "rev": "_k8riZ3S---" }, { "created": "2024-12-05T14:23:09.998Z", "entType": "CriteriaCode", "ldhId": "87611472", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/87611472", "rev": "_k8riZuW---" }, { "created": "2024-12-05T14:23:09.998Z", "entType": "CriteriaCode", "ldhId": "87611471", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/87611471", "rev": "_k8riZyu---" }, { "created": "2024-12-05T14:23:09.998Z", "entType": "CriteriaCode", "ldhId": "87611469", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/87611469", "rev": "_k8riZxi---" }, { "created": "2024-12-05T14:23:09.998Z", "entType": "CriteriaCode", "ldhId": "87611465", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/87611465", "rev": "_k8riZsy---" }, { "created": "2024-12-05T14:23:09.998Z", "entType": "CriteriaCode", "ldhId": "87611475", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/87611475", "rev": "_k8riZvm---" }, { "created": "2024-12-05T14:23:09.998Z", "entType": "CriteriaCode", "ldhId": "87611452", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/87611452", "rev": "_k8riZzq---" } ], "Disease": [ { "entId": "MONDO:0001586", "entIri": "http://purl.obolibrary.org/obo/MONDO_0001586", "entType": "Disease", "ldhId": "467883532", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/467883532", "rev": "_kZ7vCOm---" } ], "Gene": [ { "entId": "IDUA", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5391", "entType": "Gene", "ldhId": "467830262", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/467830262", "rev": "_inf5BYe--M" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "1529725542", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/1529725542", "rev": "_k8riZf6---" } ] }, "ldFor": { "Organization": [ { "entId": "50009", "entIri": "http://clinicalgenome.org/affiliation/50009", "entType": "Organization", "ldhId": "135637633", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/135637633", "rev": "_inf5B-6--E" } ], "SequenceVariantInterpretation": [ { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" } ] }, "ldhId": "1529725529", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1529725529", "modified": "2026-01-23T15:06:26.015Z", "modifier": "jennifer.goldstein@unc.edu", "rev": "_k8riZXK---" }, { "entContent": { "approvedOn": "2025-01-09T01:11:34.495Z", "description": "ClinGen Internal VCEP ACMG/AMP specifications for BRCA1 and BRCA2", "namespace": "GN092", "releaseNotes": "Updates in v1.2:\n\n* Added a second online tool for co-segregation analysis (CAL-Leiden)\n* Clarified thresholds for points assignment where likelihood ratio analysis is applicable\n* Reworded population criteria for PM3\n* Added PMIDs to Table 9 for cited mRNA splice assay results\n* Corrected typos and formatting errors\n* Added clarification for PM2\\_Supporting, PTC code for frameshift variant, mRNA data interpretation, SpliceAI, PP3 application if PVS1 is met, PS1 criteria, Table 9\n* Updated PVS1 weight for splice sites and added PMID 31343793\n* Updated PMIDs in ST16", "releasedUnderRevision": true, "shortTitle": "ENIGMA BRCA1 and BRCA2 Specification", "specificationSource": "", "states": [ { "current": false, "event": { "modifiedBy": "mandyS", "name": "cspec-created", "prevState": "START", "timeStamp": "2022-10-21T03:29:02.227Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "michaelP", "name": "pilot-rules-submitted", "prevState": "Pilot Rules In Prep", "timeStamp": "2024-12-17T02:38:58.167Z" }, "name": "Pilot Rules Submitted" }, { "current": false, "event": { "modifiedBy": "sharriso", "name": "pilot-rules-reviewed", "prevState": "Pilot Rules Submitted", "timeStamp": "2023-04-10T20:52:53.136Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "sharriso", "name": "pilot-rules-approved", "prevState": "Pilot Rules Submitted", "timeStamp": "2025-01-08T18:23:09.127Z" }, "name": "Approved For Release" }, { "current": true, "event": { "modifiedBy": "michaelP", "name": "cspec-released", "prevState": "Approved For Release", "timeStamp": "2025-01-09T01:11:34.495Z" }, "name": "Released" }, { "current": false, "event": { "modifiedBy": "michaelP", "name": "cspec-reopened", "prevState": "Released", "timeStamp": "2024-11-18T05:29:02.386Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "michaelP", "name": "pilot-rules-withdrawn", "prevState": "Pilot Rules Submitted", "timeStamp": "2024-12-17T02:34:01.704Z" }, "name": "Pilot Rules In Prep" } ], "tagNameSpaces": [ "092" ], "title": "ClinGen ENIGMA BRCA1 and BRCA2 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for BRCA1 Version 1.2.0", "version": "1.2.0", "versioned": true }, "entId": "GN092", "entType": "SequenceVariantInterpretation", "ld": { "CriteriaCode": [ { "entType": "CriteriaCode", "ldhId": "1614165321", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1614165321", "rev": "_jCgb5_u---" }, { "entType": "CriteriaCode", "ldhId": "1614165316", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1614165316", "rev": "_jCgb5Yu---" }, { "entType": "CriteriaCode", "ldhId": "1614165310", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1614165310", "rev": "_jCgb5S6---" }, { "entType": "CriteriaCode", "ldhId": "1614165309", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1614165309", "rev": "_jCgb5ZW---" }, { "entType": "CriteriaCode", "ldhId": "1614165308", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1614165308", "rev": "_jCgb5Ty---" }, { "entType": "CriteriaCode", "ldhId": "1614165304", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1614165304", "rev": "_jCgb5aq---" }, { "entType": "CriteriaCode", "ldhId": "1614165301", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1614165301", "rev": "_jCgb5We---" }, { "entType": "CriteriaCode", "ldhId": "1614165299", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1614165299", "rev": "_jCgb5C6---" }, { "entType": "CriteriaCode", "ldhId": "1614165296", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1614165296", "rev": "_jCgb5Nu---" }, { "entType": "CriteriaCode", "ldhId": "1614165320", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1614165320", "rev": "_jCgb5K----" }, { "entType": "CriteriaCode", "ldhId": "1614165312", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1614165312", "rev": "_jCgb5R6---" }, { "entType": "CriteriaCode", "ldhId": "1614165307", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1614165307", "rev": "_jCgb5Hu---" }, { "entType": "CriteriaCode", "ldhId": "1614165306", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1614165306", "rev": "_jCgb5Ue---" }, { "entType": "CriteriaCode", "ldhId": "1614165305", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1614165305", "rev": "_jCgb5Iy---" }, { "entType": "CriteriaCode", "ldhId": "1614165303", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1614165303", "rev": "_jCgb5ba---" }, { "entType": "CriteriaCode", "ldhId": "1614165297", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1614165297", "rev": "_jCgb5N----" }, { "entType": "CriteriaCode", "ldhId": "1614165295", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1614165295", "rev": "_jCgb5Fi---" }, { "entType": "CriteriaCode", "ldhId": "1614165317", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1614165317", "rev": "_jCgb5MC---" }, { "entType": "CriteriaCode", "ldhId": "1614165315", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1614165315", "rev": "_jCgb5Pe---" }, { "entType": "CriteriaCode", "ldhId": "1614165313", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1614165313", "rev": "_jCgb5A2---" }, { "entType": "CriteriaCode", "ldhId": "1614165300", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1614165300", "rev": "_jCgb5Xu---" }, { "entType": "CriteriaCode", "ldhId": "1614165302", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1614165302", "rev": "_jCgb5Vq---" }, { "entType": "CriteriaCode", "ldhId": "1614165298", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1614165298", "rev": "_jCgb5ES---" }, { "entType": "CriteriaCode", "ldhId": "1614165319", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1614165319", "rev": "_jCgb5LG---" }, { "entType": "CriteriaCode", "ldhId": "1614165318", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1614165318", "rev": "_jCgb5Ge---" }, { "entType": "CriteriaCode", "ldhId": "1614165314", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1614165314", "rev": "_jCgb5Qm---" }, { "entType": "CriteriaCode", "ldhId": "1614165311", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1614165311", "rev": "_jCgb5CW---" }, { "entType": "CriteriaCode", "ldhId": "1614165294", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1614165294", "rev": "_jCgb5Oy---" } ], "Disease": [ { "created": "2024-11-20T22:14:03.908Z", "entId": "MONDO:0700268", "entIri": "http://purl.obolibrary.org/obo/MONDO_0700268", "entType": "Disease", "ldhId": "66816760", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/66816760", "rev": "_kZ70DpC---" }, { "entId": "MONDO:0011450", "entIri": "http://purl.obolibrary.org/obo/MONDO_0011450", "entType": "Disease", "ldhId": "467887429", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/467887429", "rev": "_kZ7w61y---" } ], "Gene": [ { "entId": "BRCA1", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1100", "entType": "Gene", "ldhId": "467818961", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/467818961", "rev": "_inf5A9K--B" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "1530970800", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/1530970800", "rev": "_jCgb4oy---" } ] }, "ldFor": { "Organization": [ { "entId": "50087", "entIri": "http://clinicalgenome.org/affiliation/50087", "entType": "Organization", "ldhId": "639508895", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/639508895", "rev": "_inf5B-2--G" } ], "SequenceVariantInterpretation": [ { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" } ] }, "ldhId": "1530970787", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1530970787", "modified": "2025-01-09T01:11:36.038Z", "modifier": "michaelP", "rev": "_jCgb4Y----" }, { "entContent": { "description": "ClinGen Internal VCEP ACMG/AMP specifications for BRCA2", "namespace": "GN093", "releaseNotes": "", "shortTitle": "ENIGMA BRCA1 and BRCA2 Specification", "specificationSource": "", "states": [ { "current": false, "event": { "modifiedBy": "mandyS", "name": "cspec-created", "prevState": "START", "timeStamp": "2022-10-21T03:40:39.955Z" }, "name": "Pilot Rules In Prep" }, { "current": true, "event": { "modifiedBy": "cspecAdministrator", "name": "cspec-deleted", "prevState": "Pilot Rules In Prep", "timeStamp": "2023-01-17T16:15:03.634Z" }, "name": "CSpec Deleted" } ], "tagNameSpaces": [ "093" ], "title": "ClinGen ENIGMA BRCA1 and BRCA2 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for BRCA2 Version 1.0.0", "version": "1.0.0", "versioned": true }, "entId": "GN093", "entType": "SequenceVariantInterpretation", "ld": { "Disease": [ { "entId": "MONDO:0012933", "entIri": "http://purl.obolibrary.org/obo/MONDO_0012933", "entType": "Disease", "ldhId": "467873801", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/467873801", "rev": "_kZ7xO5S---" } ], "Gene": [ { "entId": "BRCA2", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1101", "entType": "Gene", "ldhId": "467818963", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/467818963", "rev": "_inf5A8u--d" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "1530972314", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/1530972314", "rev": "_inf5BHa--E" } ] }, "ldFor": { "Organization": [ { "entId": "50087", "entIri": "http://clinicalgenome.org/affiliation/50087", "entType": "Organization", "ldhId": "639508895", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/639508895", "rev": "_inf5B-2--G" } ], "SequenceVariantInterpretation": [ { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" } ] }, "ldhId": "1530972301", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1530972301", "modified": "2023-01-27T21:47:10.559Z", "modifier": "cspecAdministrator", "rev": "_inf5BXe--F" }, { "entContent": { "approvedOn": "2024-12-03T02:21:56.105Z", "description": "These are the ACMG/AMP variant classification specifications developed by the RASopathy VCEP for LZTR1.", "namespace": "GN094", "releaseNotes": "“Observed in ≥5 probands” removed from PM5 at Moderate strength.", "releasedUnderRevision": true, "shortTitle": "RASopathy Specification", "specificationSource": "", "states": [ { "current": false, "event": { "modifiedBy": "RFWebb", "name": "cspec-created", "prevState": "START", "timeStamp": "2022-11-03T14:32:08.907Z" }, "name": "Classification Rules In Prep" }, { "current": false, "event": { "modifiedBy": "RFWebb", "name": "classified-rules-submitted", "prevState": "Classification Rules In Prep", "timeStamp": "2023-06-08T15:00:00.782Z" }, "name": "Classification Rules Submitted" }, { "current": false, "event": { "modifiedBy": "RFWebb", "name": "classified-rules-withdrawn", "prevState": "Classification Rules Submitted", "timeStamp": "2023-05-01T16:55:59.177Z" }, "name": "Classification Rules In Prep" }, { "current": false, "event": { "modifiedBy": "sharriso", "name": "classified-rules-reviewed", "prevState": "Classification Rules Submitted", "timeStamp": "2023-03-21T18:09:32.828Z" }, "name": "Classification Rules In Prep" }, { "current": false, "event": { "modifiedBy": "sharriso", "name": "classified-rules-approved", "prevState": "Classification Rules Submitted", "timeStamp": "2023-09-06T21:13:49.978Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "RFWebb", "name": "pilot-rules-submitted", "prevState": "Pilot Rules In Prep", "timeStamp": "2024-12-02T21:30:31.945Z" }, "name": "Pilot Rules Submitted" }, { "current": false, "event": { "modifiedBy": "RFWebb", "name": "pilot-rules-withdrawn", "prevState": "Pilot Rules Submitted", "timeStamp": "2024-06-18T18:02:55.383Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "sharriso", "name": "pilot-rules-reviewed", "prevState": "Pilot Rules Submitted", "timeStamp": "2024-06-11T16:21:08.841Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "abyrne", "name": "pilot-rules-approved", "prevState": "Pilot Rules Submitted", "timeStamp": "2024-12-03T00:01:21.358Z" }, "name": "Approved For Release" }, { "current": true, "event": { "modifiedBy": "RFWebb", "name": "cspec-released", "prevState": "Approved For Release", "timeStamp": "2024-12-03T02:21:56.105Z" }, "name": "Released" }, { "current": false, "event": { "modifiedBy": "RFWebb", "name": "cspec-reopened", "prevState": "Released", "timeStamp": "2024-12-02T21:29:43.810Z" }, "name": "Pilot Rules In Prep" } ], "tagNameSpaces": [ "094" ], "title": "ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for LZTR1 Version 1.3.0", "version": "1.3.0", "versioned": true }, "entId": "GN094", "entType": "SequenceVariantInterpretation", "ld": { "CriteriaCode": [ { "created": "2024-08-03T01:08:10.868Z", "entType": "CriteriaCode", "ldhId": "1828323716", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828323716", "rev": "_i2nRBJy---" }, { "created": "2024-08-03T01:08:10.868Z", "entType": "CriteriaCode", "ldhId": "1828323715", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828323715", "rev": "_i2nRA0y---" }, { "created": "2024-08-03T01:08:10.868Z", "entType": "CriteriaCode", "ldhId": "1828323710", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828323710", "rev": "_i2nRBK2---" }, { "created": "2024-08-03T01:08:10.868Z", "entType": "CriteriaCode", "ldhId": "1828323708", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828323708", "rev": "_i2nRBFm---" }, { "created": "2024-08-03T01:08:10.868Z", "entType": "CriteriaCode", "ldhId": "1828323704", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828323704", "rev": "_i2nRBMm---" }, { "created": "2024-08-03T01:08:10.868Z", "entType": "CriteriaCode", "ldhId": "1828323702", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828323702", "rev": "_i2nRA8i---" }, { "created": "2024-08-03T01:08:10.868Z", "entType": "CriteriaCode", "ldhId": "1828323695", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828323695", "rev": "_i2nRB_S---" }, { "created": "2024-08-03T01:08:10.868Z", "entType": "CriteriaCode", "ldhId": "1828323694", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828323694", "rev": "_i2nRA5G---" }, { "created": "2024-08-03T01:08:10.868Z", "entType": "CriteriaCode", "ldhId": "1828323693", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828323693", "rev": "_i2nRBD6---" }, { "created": "2024-08-03T01:08:10.868Z", "entType": "CriteriaCode", "ldhId": "1828323691", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828323691", "rev": "_i2nRBPW---" }, { "created": "2024-08-03T01:08:10.868Z", "entType": "CriteriaCode", "ldhId": "1828323711", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828323711", "rev": "_i2nRBEy---" }, { "created": "2024-08-03T01:08:10.868Z", "entType": "CriteriaCode", "ldhId": "1828323703", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828323703", "rev": "_i2nRA4K---" }, { "created": "2024-08-03T01:08:10.868Z", "entType": "CriteriaCode", "ldhId": "1828323692", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828323692", "rev": "_i2nRBAa---" }, { "created": "2024-08-03T01:08:10.868Z", "entType": "CriteriaCode", "ldhId": "1828323709", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828323709", "rev": "_i2nRA72---" }, { "created": "2024-08-03T01:08:10.868Z", "entType": "CriteriaCode", "ldhId": "1828323707", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828323707", "rev": "_i2nRA1i---" }, { "created": "2024-08-03T01:08:10.868Z", "entType": "CriteriaCode", "ldhId": "1828323689", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828323689", "rev": "_i2nRBIu---" }, { "created": "2024-08-03T01:08:10.868Z", "entType": "CriteriaCode", "ldhId": "1828323714", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828323714", "rev": "_i2nRBBW---" }, { "created": "2024-08-03T01:08:10.868Z", "entType": "CriteriaCode", "ldhId": "1828323713", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828323713", "rev": "_i2nRA6y---" }, { "created": "2024-08-03T01:08:10.868Z", "entType": "CriteriaCode", "ldhId": "1828323706", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828323706", "rev": "_i2nRA3G---" }, { "created": "2024-08-03T01:08:10.868Z", "entType": "CriteriaCode", "ldhId": "1828323700", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828323700", "rev": "_i2nRBGu---" }, { "created": "2024-08-03T01:08:10.868Z", "entType": "CriteriaCode", "ldhId": "1828323699", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828323699", "rev": "_i2nRA9e---" }, { "created": "2024-08-03T01:08:10.868Z", "entType": "CriteriaCode", "ldhId": "1828323697", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828323697", "rev": "_i2nRB-y---" }, { "created": "2024-08-03T01:08:10.868Z", "entType": "CriteriaCode", "ldhId": "1828323690", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828323690", "rev": "_i2nRBHa---" }, { "created": "2024-08-03T01:08:10.868Z", "entType": "CriteriaCode", "ldhId": "1828323712", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828323712", "rev": "_i2nRBCi---" }, { "created": "2024-08-03T01:08:10.868Z", "entType": "CriteriaCode", "ldhId": "1828323705", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828323705", "rev": "_i2nRBLq---" }, { "created": "2024-08-03T01:08:10.868Z", "entType": "CriteriaCode", "ldhId": "1828323701", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828323701", "rev": "_i2nRBDC---" }, { "created": "2024-08-03T01:08:10.868Z", "entType": "CriteriaCode", "ldhId": "1828323698", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828323698", "rev": "_i2nRBNK---" }, { "created": "2024-08-03T01:08:10.868Z", "entType": "CriteriaCode", "ldhId": "1828323696", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1828323696", "rev": "_i2nRBOe---" } ], "Disease": [ { "entId": "MONDO:0021060", "entIri": "http://purl.obolibrary.org/obo/MONDO_0021060", "entType": "Disease", "ldhId": "135642042", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642042", "rev": "_iysfmna---" }, { "entId": "MONDO:0021060", "entIri": "http://purl.obolibrary.org/obo/MONDO_0021060", "entType": "Disease", "ldhId": "135642022", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642022", "rev": "_kZ7y8AC---" }, { "entId": "MONDO:0014693", "entIri": "http://purl.obolibrary.org/obo/MONDO_0014693", "entType": "Disease", "ldhId": "467871630", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/467871630", "rev": "_kZ7xlvW---" }, { "entId": "MONDO:0011531", "entIri": "http://purl.obolibrary.org/obo/MONDO_0011531", "entType": "Disease", "ldhId": "467887358", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/467887358", "rev": "_kZ7w8FK---" }, { "entId": "MONDO:0021060", "entIri": "http://purl.obolibrary.org/obo/MONDO_0021060", "entType": "Disease", "ldhId": "135642020", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135642020", "rev": "_inf5Bjm--c" } ], "Gene": [ { "entId": "LZTR1", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6742", "entType": "Gene", "ldhId": "467836282", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/467836282", "rev": "_inf5Bi2--D" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "1532496151", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/1532496151", "rev": "_i2nRAeO---" } ] }, "ldFor": { "Organization": [ { "entId": "50021", "entIri": "http://clinicalgenome.org/affiliation/50021", "entType": "Organization", "ldhId": "135637642", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/135637642", "rev": "_inf5B_G--D" } ], "SequenceVariantInterpretation": [ { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" } ] }, "ldhId": "1532496138", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1532496138", "modified": "2024-12-03T02:21:57.813Z", "modifier": "RFWebb", "rev": "_i2nRALe--D" }, { "entContent": { "approvedOn": "2024-04-22T15:43:45.212Z", "description": "", "namespace": "GN095", "releaseNotes": "PVS1 flow chart added as a document.\n\nLink to PS4 calculator added.", "shortTitle": "Cardiomyopathy Specification", "specificationSource": "", "states": [ { "current": false, "event": { "modifiedBy": "makelly2", "name": "cspec-created", "prevState": "START", "timeStamp": "2022-11-30T01:28:32.222Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "makelly2", "name": "pilot-rules-submitted", "prevState": "Pilot Rules In Prep", "timeStamp": "2024-03-25T21:14:44.416Z" }, "name": "Pilot Rules Submitted" }, { "current": false, "event": { "modifiedBy": "sharriso", "name": "pilot-rules-reviewed", "prevState": "Pilot Rules Submitted", "timeStamp": "2023-08-18T15:45:30.029Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "sharriso", "name": "pilot-rules-approved", "prevState": "Pilot Rules Submitted", "timeStamp": "2024-03-27T16:44:36.441Z" }, "name": "Approved For Release" }, { "current": true, "event": { "modifiedBy": "makelly2", "name": "cspec-released", "prevState": "Approved For Release", "timeStamp": "2024-04-22T15:43:45.212Z" }, "name": "Released" } ], "tagNameSpaces": [ "095" ], "title": "ClinGen Cardiomyopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MYBPC3 Version 1.0.0", "version": "1.0.0", "versioned": true }, "entId": "GN095", "entType": "SequenceVariantInterpretation", "ld": { "CriteriaCode": [ { "created": "2024-04-22T15:43:46.004Z", "entType": "CriteriaCode", "ldhId": "1768711167", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768711167", "rev": "_inf5Atm--_" }, { "created": "2024-04-22T15:43:46.004Z", "entType": "CriteriaCode", "ldhId": "1768711166", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768711166", "rev": "_inf5Ati--B" }, { "created": "2024-04-22T15:43:46.004Z", "entType": "CriteriaCode", "ldhId": "1768711165", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768711165", "rev": "_inf5Ati--A" }, { "created": "2024-04-22T15:43:46.004Z", "entType": "CriteriaCode", "ldhId": "1768711157", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768711157", "rev": "_inf5Ap2--g" }, { "created": "2024-04-22T15:43:46.004Z", "entType": "CriteriaCode", "ldhId": "1768711171", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768711171", "rev": "_inf5Ate--O" }, { "created": "2024-04-22T15:43:46.004Z", "entType": "CriteriaCode", "ldhId": "1768711169", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768711169", "rev": "_inf5Ate--L" }, { "created": "2024-04-22T15:43:46.004Z", "entType": "CriteriaCode", "ldhId": "1768711162", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768711162", "rev": "_inf5Ata--W" }, { "created": "2024-04-22T15:43:46.004Z", "entType": "CriteriaCode", "ldhId": "1768711160", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768711160", "rev": "_inf5AtW--b" }, { "created": "2024-04-22T15:43:46.004Z", "entType": "CriteriaCode", "ldhId": "1768711159", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768711159", "rev": "_inf5Ate--F" }, { "created": "2024-04-22T15:43:46.004Z", "entType": "CriteriaCode", "ldhId": "1768711156", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768711156", "rev": "_inf5Aq---L" }, { "created": "2024-04-22T15:43:46.004Z", "entType": "CriteriaCode", "ldhId": "1768711154", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768711154", "rev": "_inf5Ap2--f" }, { "created": "2024-04-22T15:43:46.004Z", "entType": "CriteriaCode", "ldhId": "1768711151", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768711151", "rev": "_inf5AqW--c" }, { "created": "2024-04-22T15:43:46.004Z", "entType": "CriteriaCode", "ldhId": "1768711150", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768711150", "rev": "_inf5AqW--b" }, { "created": "2024-04-22T15:43:46.004Z", "entType": "CriteriaCode", "ldhId": "1768711149", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768711149", "rev": "_inf5Ap2--e" }, { "created": "2024-04-22T15:43:46.004Z", "entType": "CriteriaCode", "ldhId": "1768711148", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768711148", "rev": "_inf5AqS--N" }, { "created": "2024-04-22T15:43:46.004Z", "entType": "CriteriaCode", "ldhId": "1768711146", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768711146", "rev": "_inf5AqS--M" }, { "created": "2024-04-22T15:43:46.004Z", "entType": "CriteriaCode", "ldhId": "1768711145", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768711145", "rev": "_inf5AqS--L" }, { "created": "2024-04-22T15:43:46.004Z", "entType": "CriteriaCode", "ldhId": "1768711170", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768711170", "rev": "_inf5Ati--C" }, { "created": "2024-04-22T15:43:46.004Z", "entType": "CriteriaCode", "ldhId": "1768711168", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768711168", "rev": "_inf5Ate--K" }, { "created": "2024-04-22T15:43:46.004Z", "entType": "CriteriaCode", "ldhId": "1768711164", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768711164", "rev": "_inf5Ati--_" }, { "created": "2024-04-22T15:43:46.004Z", "entType": "CriteriaCode", "ldhId": "1768711163", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768711163", "rev": "_inf5Ati---" }, { "created": "2024-04-22T15:43:46.004Z", "entType": "CriteriaCode", "ldhId": "1768711153", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768711153", "rev": "_inf5AqG--o" }, { "created": "2024-04-22T15:43:46.004Z", "entType": "CriteriaCode", "ldhId": "1768711152", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768711152", "rev": "_inf5Aq---K" }, { "created": "2024-04-22T15:43:46.004Z", "entType": "CriteriaCode", "ldhId": "1768711147", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768711147", "rev": "_inf5Aq---J" }, { "created": "2024-04-22T15:43:46.004Z", "entType": "CriteriaCode", "ldhId": "1768711172", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768711172", "rev": "_inf5Ate--Q" }, { "created": "2024-04-22T15:43:46.004Z", "entType": "CriteriaCode", "ldhId": "1768711161", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768711161", "rev": "_inf5Ate--H" }, { "created": "2024-04-22T15:43:46.004Z", "entType": "CriteriaCode", "ldhId": "1768711158", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768711158", "rev": "_inf5Ate--E" }, { "created": "2024-04-22T15:43:46.004Z", "entType": "CriteriaCode", "ldhId": "1768711155", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768711155", "rev": "_inf5AqS--O" } ], "Disease": [ { "entId": "MONDO:0005045", "entIri": "http://purl.obolibrary.org/obo/MONDO_0005045", "entType": "Disease", "ldhId": "135641999", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135641999", "rev": "_kZ7vqGG---" } ], "Gene": [ { "entId": "MYBPC3", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7551", "entType": "Gene", "ldhId": "467841063", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/467841063", "rev": "_inf5BsC-_V" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "1535304693", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/1535304693", "rev": "_inf5BHe--Q" } ] }, "ldFor": { "Organization": [ { "entId": "50002", "entIri": "http://clinicalgenome.org/affiliation/50002", "entType": "Organization", "ldhId": "135637627", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/135637627", "rev": "_inf5B-2---" } ], "SequenceVariantInterpretation": [ { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" } ] }, "ldhId": "1535304680", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1535304680", "modified": "2024-04-22T15:43:45.814Z", "modifier": "makelly2", "rev": "_inf5BXe--X" }, { "entContent": { "namespace": "GN096", "releaseNotes": "", "shortTitle": "Hereditary Breast, Ovarian and Pancreatic Cancer Specification", "specificationSource": "", "states": [ { "current": true, "event": { "modifiedBy": "meganholdren", "name": "cspec-created", "prevState": "START", "timeStamp": "2022-11-30T15:49:10.369Z" }, "name": "Classification Rules In Prep" } ], "tagNameSpaces": [ "096" ], "title": "ClinGen Hereditary Breast, Ovarian and Pancreatic Cancer Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for RAD51C Version 1.0.0", "version": "1.0.0", "versioned": true }, "entId": "GN096", "entType": "SequenceVariantInterpretation", "ld": { "Disease": [ { "entId": "MONDO:0016419", "entIri": "http://purl.obolibrary.org/obo/MONDO_0016419", "entType": "Disease", "ldhId": "467880845", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/467880845", "rev": "_kZ7x9o----" }, { "entId": "MONDO:0019391", "entIri": "http://purl.obolibrary.org/obo/MONDO_0019391", "entType": "Disease", "ldhId": "467891379", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/467891379", "rev": "_kZ7ylXy---" }, { "entId": "MONDO:0016248", "entIri": "http://purl.obolibrary.org/obo/MONDO_0016248", "entType": "Disease", "ldhId": "467881877", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/467881877", "rev": "_kZ7x7B6---" } ], "Gene": [ { "entId": "RAD51C", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9820", "entType": "Gene", "ldhId": "467847530", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/467847530", "rev": "_inf5B1S--g" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "1535377192", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/1535377192", "rev": "_inf5BHW--Q" } ] }, "ldFor": { "Organization": [ { "entId": "50039", "entIri": "http://clinicalgenome.org/affiliation/50039", "entType": "Organization", "ldhId": "639508880", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/639508880", "rev": "_inf5B_G--X" } ], "SequenceVariantInterpretation": [ { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" } ] }, "ldhId": "1535377178", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1535377178", "modified": "2022-11-30T15:49:13.920Z", "modifier": "meganholdren", "rev": "_inf5BXW--P" }, { "entContent": { "approvedOn": "2025-01-09T01:12:40.191Z", "description": "ClinGen Internal VCEP ACMG/AMP specifications for BRCA1 and BRCA2", "namespace": "GN097", "releaseNotes": "Updates in v1.2:\n\n* Added a second online tool for co-segregation analysis (CAL-Leiden)\n* Clarified thresholds for points assignment where likelihood ratio analysis is applicable\n* Reworded population criteria for PM3\n* Added PMIDs to Table 9 for cited mRNA splice assay results\n* Corrected typos and formatting errors\n* Added clarification for PM2\\_Supporting, PTC code for frameshift variant, mRNA data interpretation, SpliceAI, PP3 application if PVS1 is met, PS1 criteria, Table 9\n* Updated PVS1 weight for splice sites and added PMID 31343793\n* Updated PMIDs in ST16", "releasedUnderRevision": true, "shortTitle": "ENIGMA BRCA1 and BRCA2 Specification", "specificationSource": "", "states": [ { "current": false, "event": { "modifiedBy": "michaelP", "name": "cspec-created", "prevState": "START", "timeStamp": "2022-12-01T05:58:55.256Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "michaelP", "name": "pilot-rules-submitted", "prevState": "Pilot Rules In Prep", "timeStamp": "2024-12-17T02:40:51.067Z" }, "name": "Pilot Rules Submitted" }, { "current": false, "event": { "modifiedBy": "sharriso", "name": "pilot-rules-reviewed", "prevState": "Pilot Rules Submitted", "timeStamp": "2023-04-10T20:53:02.886Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "sharriso", "name": "pilot-rules-approved", "prevState": "Pilot Rules Submitted", "timeStamp": "2025-01-08T18:22:58.771Z" }, "name": "Approved For Release" }, { "current": true, "event": { "modifiedBy": "michaelP", "name": "cspec-released", "prevState": "Approved For Release", "timeStamp": "2025-01-09T01:12:40.191Z" }, "name": "Released" }, { "current": false, "event": { "modifiedBy": "michaelP", "name": "cspec-reopened", "prevState": "Released", "timeStamp": "2024-11-19T04:13:54.368Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "michaelP", "name": "pilot-rules-withdrawn", "prevState": "Pilot Rules Submitted", "timeStamp": "2024-12-17T02:39:23.382Z" }, "name": "Pilot Rules In Prep" } ], "tagNameSpaces": [ "097" ], "title": "ClinGen ENIGMA BRCA1 and BRCA2 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for BRCA2 Version 1.2.0", "version": "1.2.0", "versioned": true }, "entId": "GN097", "entType": "SequenceVariantInterpretation", "ld": { "CriteriaCode": [ { "entType": "CriteriaCode", "ldhId": "1614166144", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1614166144", "rev": "_jCgc5hu---" }, { "entType": "CriteriaCode", "ldhId": "1614166138", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1614166138", "rev": "_jCgc5ZK---" }, { "entType": "CriteriaCode", "ldhId": "1614166136", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1614166136", "rev": "_jCgc5bW---" }, { "entType": "CriteriaCode", "ldhId": "1614166128", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1614166128", "rev": "_jCgc5oO---" }, { "entType": "CriteriaCode", "ldhId": "1614166118", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1614166118", "rev": "_jCgc5pW---" }, { "entType": "CriteriaCode", "ldhId": "1614166140", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1614166140", "rev": "_jCgc5sW---" }, { "entType": "CriteriaCode", "ldhId": "1614166139", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1614166139", "rev": "_jCgc5YW---" }, { "entType": "CriteriaCode", "ldhId": "1614166130", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1614166130", "rev": "_jCgc5uq---" }, { "entType": "CriteriaCode", "ldhId": "1614166129", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1614166129", "rev": "_jCgc5v2---" }, { "entType": "CriteriaCode", "ldhId": "1614166127", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1614166127", "rev": "_jCgc5dq---" }, { "entType": "CriteriaCode", "ldhId": "1614166126", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1614166126", "rev": "_jCgc5Se---" }, { "entType": "CriteriaCode", "ldhId": "1614166124", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1614166124", "rev": "_jCgc5VK---" }, { "entType": "CriteriaCode", "ldhId": "1614166123", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1614166123", "rev": "_jCgc5eu---" }, { "entType": "CriteriaCode", "ldhId": "1614166122", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1614166122", "rev": "_jCgc5WG---" }, { "entType": "CriteriaCode", "ldhId": "1614166142", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1614166142", "rev": "_jCgc5mO---" }, { "entType": "CriteriaCode", "ldhId": "1614166133", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1614166133", "rev": "_jCgc5iy---" }, { "entType": "CriteriaCode", "ldhId": "1614166131", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1614166131", "rev": "_jCgc5nO---" }, { "entType": "CriteriaCode", "ldhId": "1614166121", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1614166121", "rev": "_jCgc5fq---" }, { "entType": "CriteriaCode", "ldhId": "1614166137", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1614166137", "rev": "_jCgc5ae---" }, { "entType": "CriteriaCode", "ldhId": "1614166135", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1614166135", "rev": "_jCgc5te---" }, { "entType": "CriteriaCode", "ldhId": "1614166132", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1614166132", "rev": "_jCgc5j2---" }, { "entType": "CriteriaCode", "ldhId": "1614166119", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1614166119", "rev": "_jCgc5Xi---" }, { "entType": "CriteriaCode", "ldhId": "1614166117", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1614166117", "rev": "_jCgc5qW---" }, { "entType": "CriteriaCode", "ldhId": "1614166143", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1614166143", "rev": "_jCgc5k6---" }, { "entType": "CriteriaCode", "ldhId": "1614166141", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1614166141", "rev": "_jCgc5r----" }, { "entType": "CriteriaCode", "ldhId": "1614166134", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1614166134", "rev": "_jCgc5ci---" }, { "entType": "CriteriaCode", "ldhId": "1614166125", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1614166125", "rev": "_jCgc5U----" }, { "entType": "CriteriaCode", "ldhId": "1614166120", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1614166120", "rev": "_jCgc5g6---" } ], "Disease": [ { "created": "2024-11-20T22:14:03.908Z", "entId": "MONDO:0700269", "entIri": "http://purl.obolibrary.org/obo/MONDO_0700269", "entType": "Disease", "ldhId": "66816761", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/66816761", "rev": "_kZ70DpO---" }, { "entId": "MONDO:0012933", "entIri": "http://purl.obolibrary.org/obo/MONDO_0012933", "entType": "Disease", "ldhId": "467873801", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/467873801", "rev": "_kZ7xO5S---" } ], "Gene": [ { "entId": "BRCA2", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1101", "entType": "Gene", "ldhId": "467818963", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/467818963", "rev": "_inf5A8u--d" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "1535438847", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/1535438847", "rev": "_jCgc45m---" } ] }, "ldFor": { "Organization": [ { "entId": "50087", "entIri": "http://clinicalgenome.org/affiliation/50087", "entType": "Organization", "ldhId": "639508895", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/639508895", "rev": "_inf5B-2--G" } ], "SequenceVariantInterpretation": [ { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" } ] }, "ldhId": "1535438831", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1535438831", "modified": "2025-01-09T01:12:41.860Z", "modifier": "michaelP", "rev": "_jCgc4oG---" }, { "entContent": { "approvedOn": "2024-04-22T15:44:13.911Z", "description": "", "namespace": "GN098", "releaseNotes": "PS4 calculator link added.", "shortTitle": "Cardiomyopathy Specification", "specificationSource": "", "states": [ { "current": false, "event": { "modifiedBy": "makelly2", "name": "cspec-created", "prevState": "START", "timeStamp": "2022-12-05T02:36:26.682Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "makelly2", "name": "pilot-rules-submitted", "prevState": "Pilot Rules In Prep", "timeStamp": "2024-03-25T21:15:05.858Z" }, "name": "Pilot Rules Submitted" }, { "current": false, "event": { "modifiedBy": "sharriso", "name": "pilot-rules-reviewed", "prevState": "Pilot Rules Submitted", "timeStamp": "2024-02-05T15:44:02.875Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "sharriso", "name": "pilot-rules-approved", "prevState": "Pilot Rules Submitted", "timeStamp": "2024-03-27T16:44:16.535Z" }, "name": "Approved For Release" }, { "current": true, "event": { "modifiedBy": "makelly2", "name": "cspec-released", "prevState": "Approved For Release", "timeStamp": "2024-04-22T15:44:13.911Z" }, "name": "Released" } ], "tagNameSpaces": [ "098" ], "title": "ClinGen Cardiomyopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for TNNI3 Version 1.0.0", "version": "1.0.0", "versioned": true }, "entId": "GN098", "entType": "SequenceVariantInterpretation", "ld": { "CriteriaCode": [ { "created": "2024-04-22T15:44:14.699Z", "entType": "CriteriaCode", "ldhId": "1768712804", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768712804", "rev": "_inf5AtW--j" }, { "created": "2024-04-22T15:44:14.699Z", "entType": "CriteriaCode", "ldhId": "1768712794", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768712794", "rev": "_inf5Atm--D" }, { "created": "2024-04-22T15:44:14.699Z", "entType": "CriteriaCode", "ldhId": "1768712793", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768712793", "rev": "_inf5Ate--d" }, { "created": "2024-04-22T15:44:14.699Z", "entType": "CriteriaCode", "ldhId": "1768712786", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768712786", "rev": "_inf5Ati--F" }, { "created": "2024-04-22T15:44:14.699Z", "entType": "CriteriaCode", "ldhId": "1768712781", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768712781", "rev": "_inf5Ate--T" }, { "created": "2024-04-22T15:44:14.699Z", "entType": "CriteriaCode", "ldhId": "1768712779", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768712779", "rev": "_inf5Ati--D" }, { "created": "2024-04-22T15:44:14.699Z", "entType": "CriteriaCode", "ldhId": "1768712802", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768712802", "rev": "_inf5AtW--h" }, { "created": "2024-04-22T15:44:14.699Z", "entType": "CriteriaCode", "ldhId": "1768712801", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768712801", "rev": "_inf5AtW--g" }, { "created": "2024-04-22T15:44:14.699Z", "entType": "CriteriaCode", "ldhId": "1768712791", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768712791", "rev": "_inf5Atm--C" }, { "created": "2024-04-22T15:44:14.699Z", "entType": "CriteriaCode", "ldhId": "1768712788", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768712788", "rev": "_inf5Ata--Z" }, { "created": "2024-04-22T15:44:14.699Z", "entType": "CriteriaCode", "ldhId": "1768712803", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768712803", "rev": "_inf5Atm--E" }, { "created": "2024-04-22T15:44:14.699Z", "entType": "CriteriaCode", "ldhId": "1768712797", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768712797", "rev": "_inf5Ate--h" }, { "created": "2024-04-22T15:44:14.699Z", "entType": "CriteriaCode", "ldhId": "1768712796", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768712796", "rev": "_inf5Ate--f" }, { "created": "2024-04-22T15:44:14.699Z", "entType": "CriteriaCode", "ldhId": "1768712790", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768712790", "rev": "_inf5Ate--c" }, { "created": "2024-04-22T15:44:14.699Z", "entType": "CriteriaCode", "ldhId": "1768712783", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768712783", "rev": "_inf5AtW--d" }, { "created": "2024-04-22T15:44:14.699Z", "entType": "CriteriaCode", "ldhId": "1768712782", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768712782", "rev": "_inf5Atm--B" }, { "created": "2024-04-22T15:44:14.699Z", "entType": "CriteriaCode", "ldhId": "1768712806", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768712806", "rev": "_inf5Ati--I" }, { "created": "2024-04-22T15:44:14.699Z", "entType": "CriteriaCode", "ldhId": "1768712798", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768712798", "rev": "_inf5Ate--j" }, { "created": "2024-04-22T15:44:14.699Z", "entType": "CriteriaCode", "ldhId": "1768712787", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768712787", "rev": "_inf5AtW--f" }, { "created": "2024-04-22T15:44:14.699Z", "entType": "CriteriaCode", "ldhId": "1768712784", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768712784", "rev": "_inf5Ati--E" }, { "created": "2024-04-22T15:44:14.699Z", "entType": "CriteriaCode", "ldhId": "1768712805", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768712805", "rev": "_inf5AtW--l" }, { "created": "2024-04-22T15:44:14.699Z", "entType": "CriteriaCode", "ldhId": "1768712800", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768712800", "rev": "_inf5Ate--l" }, { "created": "2024-04-22T15:44:14.699Z", "entType": "CriteriaCode", "ldhId": "1768712799", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768712799", "rev": "_inf5Ati--H" }, { "created": "2024-04-22T15:44:14.699Z", "entType": "CriteriaCode", "ldhId": "1768712795", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768712795", "rev": "_inf5Ata--b" }, { "created": "2024-04-22T15:44:14.699Z", "entType": "CriteriaCode", "ldhId": "1768712792", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768712792", "rev": "_inf5Ati--G" }, { "created": "2024-04-22T15:44:14.699Z", "entType": "CriteriaCode", "ldhId": "1768712789", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768712789", "rev": "_inf5Ate--a" }, { "created": "2024-04-22T15:44:14.699Z", "entType": "CriteriaCode", "ldhId": "1768712785", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768712785", "rev": "_inf5Ate--X" }, { "created": "2024-04-22T15:44:14.699Z", "entType": "CriteriaCode", "ldhId": "1768712780", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768712780", "rev": "_inf5Atm--A" } ], "Disease": [ { "entId": "MONDO:0005045", "entIri": "http://purl.obolibrary.org/obo/MONDO_0005045", "entType": "Disease", "ldhId": "135641999", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135641999", "rev": "_kZ7vqGG---" } ], "Gene": [ { "entId": "TNNI3", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11947", "entType": "Gene", "ldhId": "467860673", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/467860673", "rev": "_inf5COy--m" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "1535821579", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/1535821579", "rev": "_inf5BHe--U" } ] }, "ldFor": { "Organization": [ { "entId": "50002", "entIri": "http://clinicalgenome.org/affiliation/50002", "entType": "Organization", "ldhId": "135637627", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/135637627", "rev": "_inf5B-2---" } ], "SequenceVariantInterpretation": [ { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" } ] }, "ldhId": "1535821566", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1535821566", "modified": "2024-04-22T15:44:14.518Z", "modifier": "makelly2", "rev": "_inf5BXm--_" }, { "entContent": { "approvedOn": "2024-04-22T15:44:40.270Z", "description": "", "namespace": "GN099", "releaseNotes": "PS4 calculator link added.", "shortTitle": "Cardiomyopathy Specification", "specificationSource": "", "states": [ { "current": false, "event": { "modifiedBy": "makelly2", "name": "cspec-created", "prevState": "START", "timeStamp": "2022-12-05T03:19:18.304Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "makelly2", "name": "pilot-rules-submitted", "prevState": "Pilot Rules In Prep", "timeStamp": "2024-03-25T21:15:23.858Z" }, "name": "Pilot Rules Submitted" }, { "current": false, "event": { "modifiedBy": "sharriso", "name": "pilot-rules-reviewed", "prevState": "Pilot Rules Submitted", "timeStamp": "2024-02-05T15:44:12.768Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "sharriso", "name": "pilot-rules-approved", "prevState": "Pilot Rules Submitted", "timeStamp": "2024-03-27T16:44:04.602Z" }, "name": "Approved For Release" }, { "current": true, "event": { "modifiedBy": "makelly2", "name": "cspec-released", "prevState": "Approved For Release", "timeStamp": "2024-04-22T15:44:40.270Z" }, "name": "Released" } ], "tagNameSpaces": [ "099" ], "title": "ClinGen Cardiomyopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for TNNT2 Version 1.0.0", "version": "1.0.0", "versioned": true }, "entId": "GN099", "entType": "SequenceVariantInterpretation", "ld": { "CriteriaCode": [ { "created": "2024-04-22T15:44:40.957Z", "entType": "CriteriaCode", "ldhId": "1768714458", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768714458", "rev": "_inf5Atm--K" }, { "created": "2024-04-22T15:44:40.957Z", "entType": "CriteriaCode", "ldhId": "1768714457", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768714457", "rev": "_inf5AtW--s" }, { "created": "2024-04-22T15:44:40.957Z", "entType": "CriteriaCode", "ldhId": "1768714454", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768714454", "rev": "_inf5Ati--N" }, { "created": "2024-04-22T15:44:40.957Z", "entType": "CriteriaCode", "ldhId": "1768714450", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768714450", "rev": "_inf5Atm--I" }, { "created": "2024-04-22T15:44:40.957Z", "entType": "CriteriaCode", "ldhId": "1768714441", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768714441", "rev": "_inf5Ata--i" }, { "created": "2024-04-22T15:44:40.957Z", "entType": "CriteriaCode", "ldhId": "1768714436", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768714436", "rev": "_inf5Ata--e" }, { "created": "2024-04-22T15:44:40.957Z", "entType": "CriteriaCode", "ldhId": "1768714434", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768714434", "rev": "_inf5Ata--d" }, { "created": "2024-04-22T15:44:40.957Z", "entType": "CriteriaCode", "ldhId": "1768714460", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768714460", "rev": "_inf5Atm--M" }, { "created": "2024-04-22T15:44:40.957Z", "entType": "CriteriaCode", "ldhId": "1768714459", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768714459", "rev": "_inf5Atm--L" }, { "created": "2024-04-22T15:44:40.957Z", "entType": "CriteriaCode", "ldhId": "1768714452", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768714452", "rev": "_inf5Ati--L" }, { "created": "2024-04-22T15:44:40.957Z", "entType": "CriteriaCode", "ldhId": "1768714451", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768714451", "rev": "_inf5Atm--J" }, { "created": "2024-04-22T15:44:40.957Z", "entType": "CriteriaCode", "ldhId": "1768714448", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768714448", "rev": "_inf5Ata--n" }, { "created": "2024-04-22T15:44:40.957Z", "entType": "CriteriaCode", "ldhId": "1768714461", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768714461", "rev": "_inf5Atm--N" }, { "created": "2024-04-22T15:44:40.957Z", "entType": "CriteriaCode", "ldhId": "1768714456", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768714456", "rev": "_inf5Ati--O" }, { "created": "2024-04-22T15:44:40.957Z", "entType": "CriteriaCode", "ldhId": "1768714455", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768714455", "rev": "_inf5Ata--q" }, { "created": "2024-04-22T15:44:40.957Z", "entType": "CriteriaCode", "ldhId": "1768714446", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768714446", "rev": "_inf5Ate--r" }, { "created": "2024-04-22T15:44:40.957Z", "entType": "CriteriaCode", "ldhId": "1768714444", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768714444", "rev": "_inf5AtW--o" }, { "created": "2024-04-22T15:44:40.957Z", "entType": "CriteriaCode", "ldhId": "1768714440", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768714440", "rev": "_inf5Atm--G" }, { "created": "2024-04-22T15:44:40.957Z", "entType": "CriteriaCode", "ldhId": "1768714439", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768714439", "rev": "_inf5AtW--m" }, { "created": "2024-04-22T15:44:40.957Z", "entType": "CriteriaCode", "ldhId": "1768714435", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768714435", "rev": "_inf5Ati--J" }, { "created": "2024-04-22T15:44:40.957Z", "entType": "CriteriaCode", "ldhId": "1768714453", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768714453", "rev": "_inf5Ati--M" }, { "created": "2024-04-22T15:44:40.957Z", "entType": "CriteriaCode", "ldhId": "1768714449", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768714449", "rev": "_inf5Ati--K" }, { "created": "2024-04-22T15:44:40.957Z", "entType": "CriteriaCode", "ldhId": "1768714447", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768714447", "rev": "_inf5AtW--q" }, { "created": "2024-04-22T15:44:40.957Z", "entType": "CriteriaCode", "ldhId": "1768714445", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768714445", "rev": "_inf5Ata--m" }, { "created": "2024-04-22T15:44:40.957Z", "entType": "CriteriaCode", "ldhId": "1768714443", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768714443", "rev": "_inf5Ata--k" }, { "created": "2024-04-22T15:44:40.957Z", "entType": "CriteriaCode", "ldhId": "1768714442", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768714442", "rev": "_inf5Atm--H" }, { "created": "2024-04-22T15:44:40.957Z", "entType": "CriteriaCode", "ldhId": "1768714438", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768714438", "rev": "_inf5Ate--q" }, { "created": "2024-04-22T15:44:40.957Z", "entType": "CriteriaCode", "ldhId": "1768714437", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768714437", "rev": "_inf5Atm--F" } ], "Disease": [ { "entId": "MONDO:0005021", "entIri": "http://purl.obolibrary.org/obo/MONDO_0005021", "entType": "Disease", "ldhId": "135641998", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135641998", "rev": "_kZ7vqBm---" }, { "entId": "MONDO:0005045", "entIri": "http://purl.obolibrary.org/obo/MONDO_0005045", "entType": "Disease", "ldhId": "135641999", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135641999", "rev": "_kZ7vqGG---" } ], "Gene": [ { "entId": "TNNT2", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11949", "entType": "Gene", "ldhId": "467860676", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/467860676", "rev": "_inf5COm--f" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "1535826201", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/1535826201", "rev": "_inf5BHe--l" } ] }, "ldFor": { "Organization": [ { "entId": "50002", "entIri": "http://clinicalgenome.org/affiliation/50002", "entType": "Organization", "ldhId": "135637627", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/135637627", "rev": "_inf5B-2---" } ], "SequenceVariantInterpretation": [ { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" } ] }, "ldhId": "1535826188", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1535826188", "modified": "2024-04-22T15:44:40.757Z", "modifier": "makelly2", "rev": "_inf5BXW--Q" }, { "entContent": { "approvedOn": "2024-04-22T15:45:10.424Z", "description": "", "namespace": "GN100", "releaseNotes": "PS4 calculator link added.", "shortTitle": "Cardiomyopathy Specification", "specificationSource": "", "states": [ { "current": false, "event": { "modifiedBy": "makelly2", "name": "cspec-created", "prevState": "START", "timeStamp": "2022-12-05T03:24:58.208Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "makelly2", "name": "pilot-rules-submitted", "prevState": "Pilot Rules In Prep", "timeStamp": "2024-03-25T21:15:41.902Z" }, "name": "Pilot Rules Submitted" }, { "current": false, "event": { "modifiedBy": "sharriso", "name": "pilot-rules-reviewed", "prevState": "Pilot Rules Submitted", "timeStamp": "2024-02-05T15:44:22.430Z" }, "name": "Pilot Rules In Prep" }, { "current": false, "event": { "modifiedBy": "sharriso", "name": "pilot-rules-approved", "prevState": "Pilot Rules Submitted", "timeStamp": "2024-03-27T16:43:44.390Z" }, "name": "Approved For Release" }, { "current": true, "event": { "modifiedBy": "makelly2", "name": "cspec-released", "prevState": "Approved For Release", "timeStamp": "2024-04-22T15:45:10.424Z" }, "name": "Released" } ], "tagNameSpaces": [ "100" ], "title": "ClinGen Cardiomyopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for TPM1 Version 1.0.0", "version": "1.0.0", "versioned": true }, "entId": "GN100", "entType": "SequenceVariantInterpretation", "ld": { "CriteriaCode": [ { "created": "2024-04-22T15:45:11.035Z", "entType": "CriteriaCode", "ldhId": "1768716032", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768716032", "rev": "_inf5Ate--2" }, { "created": "2024-04-22T15:45:11.035Z", "entType": "CriteriaCode", "ldhId": "1768716025", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768716025", "rev": "_inf5Ate--F" }, { "created": "2024-04-22T15:45:11.035Z", "entType": "CriteriaCode", "ldhId": "1768716019", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768716019", "rev": "_inf5Atm--P" }, { "created": "2024-04-22T15:45:11.035Z", "entType": "CriteriaCode", "ldhId": "1768716015", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768716015", "rev": "_inf5AtW--u" }, { "created": "2024-04-22T15:45:11.035Z", "entType": "CriteriaCode", "ldhId": "1768716026", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768716026", "rev": "_inf5Atm--R" }, { "created": "2024-04-22T15:45:11.035Z", "entType": "CriteriaCode", "ldhId": "1768716018", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768716018", "rev": "_inf5AtW--w" }, { "created": "2024-04-22T15:45:11.035Z", "entType": "CriteriaCode", "ldhId": "1768716017", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768716017", "rev": "_inf5Ati--Q" }, { "created": "2024-04-22T15:45:11.035Z", "entType": "CriteriaCode", "ldhId": "1768716011", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768716011", "rev": "_inf5Ati--P" }, { "created": "2024-04-22T15:45:11.035Z", "entType": "CriteriaCode", "ldhId": "1768716031", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768716031", "rev": "_inf5Ati--R" }, { "created": "2024-04-22T15:45:11.035Z", "entType": "CriteriaCode", "ldhId": "1768716024", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768716024", "rev": "_inf5Atm--Q" }, { "created": "2024-04-22T15:45:11.035Z", "entType": "CriteriaCode", "ldhId": "1768716023", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768716023", "rev": "_inf5Ata--_" }, { "created": "2024-04-22T15:45:11.035Z", "entType": "CriteriaCode", "ldhId": "1768716016", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768716016", "rev": "_inf5Ate--A" }, { "created": "2024-04-22T15:45:11.035Z", "entType": "CriteriaCode", "ldhId": "1768716010", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768716010", "rev": "_inf5Ate--v" }, { "created": "2024-04-22T15:45:11.035Z", "entType": "CriteriaCode", "ldhId": "1768716009", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768716009", "rev": "_inf5Ate--t" }, { "created": "2024-04-22T15:45:11.035Z", "entType": "CriteriaCode", "ldhId": "1768716036", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768716036", "rev": "_inf5Ate--4" }, { "created": "2024-04-22T15:45:11.035Z", "entType": "CriteriaCode", "ldhId": "1768716034", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768716034", "rev": "_inf5Ata--C" }, { "created": "2024-04-22T15:45:11.035Z", "entType": "CriteriaCode", "ldhId": "1768716033", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768716033", "rev": "_inf5Ate--M" }, { "created": "2024-04-22T15:45:11.035Z", "entType": "CriteriaCode", "ldhId": "1768716030", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768716030", "rev": "_inf5Ate--K" }, { "created": "2024-04-22T15:45:11.035Z", "entType": "CriteriaCode", "ldhId": "1768716027", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768716027", "rev": "_inf5Ate--I" }, { "created": "2024-04-22T15:45:11.035Z", "entType": "CriteriaCode", "ldhId": "1768716022", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768716022", "rev": "_inf5AtW--y" }, { "created": "2024-04-22T15:45:11.035Z", "entType": "CriteriaCode", "ldhId": "1768716021", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768716021", "rev": "_inf5Ate--0" }, { "created": "2024-04-22T15:45:11.035Z", "entType": "CriteriaCode", "ldhId": "1768716013", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768716013", "rev": "_inf5Atm--O" }, { "created": "2024-04-22T15:45:11.035Z", "entType": "CriteriaCode", "ldhId": "1768716035", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768716035", "rev": "_inf5Ata--E" }, { "created": "2024-04-22T15:45:11.035Z", "entType": "CriteriaCode", "ldhId": "1768716029", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768716029", "rev": "_inf5Atm--S" }, { "created": "2024-04-22T15:45:11.035Z", "entType": "CriteriaCode", "ldhId": "1768716028", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768716028", "rev": "_inf5Ata--B" }, { "created": "2024-04-22T15:45:11.035Z", "entType": "CriteriaCode", "ldhId": "1768716020", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768716020", "rev": "_inf5Ate--B" }, { "created": "2024-04-22T15:45:11.035Z", "entType": "CriteriaCode", "ldhId": "1768716014", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768716014", "rev": "_inf5Ate---" }, { "created": "2024-04-22T15:45:11.035Z", "entType": "CriteriaCode", "ldhId": "1768716012", "ldhIri": "https://cspec.genome.network/cspec/CriteriaCode/id/1768716012", "rev": "_inf5Ate--z" } ], "Disease": [ { "entId": "MONDO:0005045", "entIri": "http://purl.obolibrary.org/obo/MONDO_0005045", "entType": "Disease", "ldhId": "135641999", "ldhIri": "https://cspec.genome.network/cspec/Disease/id/135641999", "rev": "_kZ7vqGG---" } ], "Gene": [ { "entId": "TPM1", "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12010", "entType": "Gene", "ldhId": "467860829", "ldhIri": "https://cspec.genome.network/cspec/Gene/id/467860829", "rev": "_inf5COq--d" } ], "RuleSet": [ { "entType": "RuleSet", "ldhId": "1535827410", "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/1535827410", "rev": "_inf5BHe--Y" } ] }, "ldFor": { "Organization": [ { "entId": "50002", "entIri": "http://clinicalgenome.org/affiliation/50002", "entType": "Organization", "ldhId": "135637627", "ldhIri": "https://cspec.genome.network/cspec/Organization/id/135637627", "rev": "_inf5B-2---" } ], "SequenceVariantInterpretation": [ { "entId": "GN001", "entType": "SequenceVariantInterpretation", "ldhId": "135637585", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637585", "rev": "_inf5BXe---" } ] }, "ldhId": "1535827397", "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1535827397", "modified": "2024-04-22T15:45:10.863Z", "modifier": "makelly2", "rev": "_inf5BXm--A" } ], "metadata": { "rendered": { "by": "https://cspec.genome.network/cspec/srvc", "when": "2026-04-29T09:18:20.195Z" } }, "status": { "code": 200, "name": "OK" } }