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Criteria Specification (CSpec) Registry is intended to provide access to the Criteria Specifications used and applied by ClinGen Variant Curation Expert Panels and biocurators in the classification of variants.

For general information about the ClinGen Expert Panels and Variant Curation please visit: Clinical Domain Working Groups. For specific inquiries regarding content correction or adding a new criteria specification refer to the Help page.

Should you encounter any issues regarding the data displayed, lack of functionality or other problems, please let us know by contacting us via email.

Version History

  • (2022-10-06)
    Version 2.0.1
    • Added PDF dowload feature.
    • Improved the specification document view to change the 3-column display to a row-wise format
    • PDF download is available for version specific pages
  • (2022-08-16)
    Version 2.0.0
    • Added features to track SVI approval stages.
    • Updated specification document structure to include the SVI approval stages.
    • Synchronised CSpec Regsitry data and UI with CSpec Editor version 1.0.0.
    • Upgraded JSON API to include references, rules for combining criteria code, file attachments and extensive markdown support for the specification text.
  • (2022-08-11)
    Version 1.2.5
    • Added approved specification document - ClinGen Cerebral Creatine Deficiency Syndromes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for GAMT Version 1.
    • Added approved specification document - ClinGen Cerebral Creatine Deficiency Syndromes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for GATM Version 1.
    • Added approved specification document - ClinGen Cerebral Creatine Deficiency Syndromes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SLC6A8 Version 1.
  • (2022-05-05)
    Version 1.2.4
    • Added approved specification document - ClinGen DICER1 and miRNA-Processing Gene Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for DICER1 Version 1.
  • (2022-04-10)
    Version 1.2.3
    • Added approved specification document - ClinGen Hearing Loss Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for OTOF and MYO15A Version 1.
    • Updated approved specification document - ClinGen Hearing Loss Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for CDH23, COCH, GJB2, KCNQ4, MYO6, MYO7A, SLC26A4, TECTA and USH2A Version 2.
  • (2021-12-08)
    Version 1.2.2
    • Added specification for the newly approved Glaucoma VCEP.
  • (2021-11-03)
    Version 1.2.1
    • Version increment for CDH1, Myeloid Malignancy and Platelet Disorders VCEPs.
    • UI bug fixes for the summary view.
  • (2021-10-07)
    Version 1.2.0
    • Added specification for the newly approved Brain Malformations VCEP.
    • Added specification for the newly approved Monogenic Diabetes VCEP.
  • (2021-08-27)
    Version 1.1.0
    • Formating of the exiting specifications corrected for the UI.
    • Affiliation UI page added to list all the specification with the affiliaton ID.
    • Criteria specification version increment for TP53, Lysosomal Storage Disorders and Familial Hypercholesterolemia VCEPs.
  • (2021-06-03)
    Version 1.0.0 supports
    • Entry page listing for all approved (Step 4) Criteria Specifications as of June 2021.
    • Feature to search Specifications by gene, disease, VCEP name, approval date, or version.
    • Detailed view of each Specification.
    • View summarising criteria codes across multiple VCEP Specifications.
    • Downloadable content in JSON, JSON-LD, CSV, TSV and PDF formats.
    • Publicly accessible REST APIs for both JSON & JSON-LD representation of a Specification.