Criteria Specification Registry

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.

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Summary of Criteria Codes

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ClinGen Familial Hypercholesterolemia Expert Panel Specifications to the ACMG/AMP Variant Classification Guidelines Version 1.2

ClinGen Familial Hypercholesterolemia Expert Panel Specifications to the ACMG/AMP Variant Classification Guidelines Version 1.2
Rule Set:	Rules For LDLR
Disease(s)	hypercholesterolemia, familial, 1
Gene(s)	LDLR
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen Cardiomyopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1

ClinGen Cardiomyopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1
Rule Set:	Rules For MYH7
Disease(s)	NA
Gene(s)	MYH7
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen PTEN Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for PTEN Version 3.0.0

ClinGen PTEN Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for PTEN Version 3.0.0
Rule Set:	Rules For PTEN
Disease(s)	NA
Gene(s)	PTEN
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1

ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1
Rule Set:	Rules For SHOC2, NRAS, RAF1, SOS1, SOS2, PTPN11, KRAS, MAP2K1, HRAS, RIT1, MAP2K2, BRAF
Disease(s)	NA
Gene(s)	SHOC2, NRAS, RAF1, SOS1, SOS2, PTPN11, KRAS, MAP2K1, HRAS, RIT1, MAP2K2, BRAF
Genetype	nuclear
Criteria Code	Strength Specification

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

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
Rule Set:	Rules For CDH23, COCH, GJB2, KCNQ4, MYO6, MYO7A, SLC26A4, TECTA, USH2A
Disease(s)	Usher syndrome, nonsyndromic genetic hearing loss, Pendred syndrome
Gene(s)	CDH23, COCH, GJB2, KCNQ4, MYO6, MYO7A, SLC26A4, TECTA, USH2A
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen PAH Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1

ClinGen PAH Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1
Rule Set:	Rules For PAH
Disease(s)	phenylketonuria
Gene(s)	PAH
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen CDH1 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 3.1

ClinGen CDH1 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 3.1
Rule Set:	Rules For CDH1
Disease(s)	hereditary diffuse gastric adenocarcinoma
Gene(s)	CDH1
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen Myeloid Malignancy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2

ClinGen Myeloid Malignancy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2
Rule Set:	Rules For RUNX1
Disease(s)	hereditary thrombocytopenia and hematologic cancer predisposition syndrome
Gene(s)	RUNX1
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen TP53 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for TP53 Version 1.4.0

ClinGen TP53 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for TP53 Version 1.4.0
Rule Set:	Rules For TP53
Disease(s)	Li-Fraumeni syndrome
Gene(s)	TP53
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen Lysosomal Storage Disorders Variant Curation Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2

ClinGen Lysosomal Storage Disorders Variant Curation Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2
Rule Set:	Rules For GAA
Disease(s)	glycogen storage disease II
Gene(s)	GAA
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen Platelet Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2.1

ClinGen Platelet Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2.1
Rule Set:	Rules For ITGA2B, ITGB3
Disease(s)	Glanzmann thrombasthenia
Gene(s)	ITGA2B, ITGB3
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen Malignant Hyperthermia Susceptibility Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for RYR1 Version 2

ClinGen Malignant Hyperthermia Susceptibility Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for RYR1 Version 2
Rule Set:	Rules For RYR1
Disease(s)	malignant hyperthermia of anesthesia
Gene(s)	RYR1
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen Mitochondrial Disease Nuclear and Mitochondrial Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1_ntDNA

ClinGen Mitochondrial Disease Nuclear and Mitochondrial Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1_ntDNA
Rule Set:	Rules For SLC19A3	Rules For PDHA1	Rules For POLG	Rules For ETHE1
Disease(s)	biotin-responsive basal ganglia disease	pyruvate dehydrogenase deficiency	mitochondrial disease	ethylmalonic encephalopathy
Gene(s)	SLC19A3	PDHA1	POLG	ETHE1
Genetype	nuclear	nuclear	nuclear	nuclear
Criteria Code	Strength Specification	Strength Specification	Strength Specification	Strength Specification

ClinGen Mitochondrial Disease Nuclear and Mitochondrial Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1_mtDNA

ClinGen Mitochondrial Disease Nuclear and Mitochondrial Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1_mtDNA
Rule Set:	Rules
Disease(s)	NA
Gene(s)	NA
Genetype	mitochondrial
Criteria Code	Strength Specification

ClinGen Hereditary Breast, Ovarian and Pancreatic Cancer Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for PALB2 Version 1.0.0

ClinGen Hereditary Breast, Ovarian and Pancreatic Cancer Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for PALB2 Version 1.0.0
Rule Set:	Rules For PALB2
Disease(s)	hereditary breast carcinoma, familial pancreatic carcinoma, Fanconi anemia complementation group N
Gene(s)	PALB2
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen Thrombosis Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SERPINC1 Version 1.0.0

ClinGen Thrombosis Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SERPINC1 Version 1.0.0
Rule Set:	Rules For SERPINC1
Disease(s)	hereditary antithrombin deficiency
Gene(s)	SERPINC1
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen Monogenic Diabetes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for HNF4A Version 1.1.0

ClinGen Monogenic Diabetes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for HNF4A Version 1.1.0
Rule Set:	Rules For HNF4A
Disease(s)	monogenic diabetes
Gene(s)	HNF4A
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen Monogenic Diabetes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for GCK Version 1.3.0

ClinGen Monogenic Diabetes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for GCK Version 1.3.0
Rule Set:	Rules For GCK
Disease(s)	monogenic diabetes
Gene(s)	GCK
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for APC Version 2.0.3

ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for APC Version 2.0.3
Rule Set:	Rules For APC
Disease(s)	familial adenomatous polyposis 1
Gene(s)	APC
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen ENIGMA BRCA1 and BRCA2 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for BRCA1 Version 1.0.0

ClinGen ENIGMA BRCA1 and BRCA2 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for BRCA1 Version 1.0.0
Rule Set:	Rules For BRCA1
Disease(s)	breast-ovarian cancer, familial, susceptibility to, 1
Gene(s)	BRCA1
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen ENIGMA BRCA1 and BRCA2 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for BRCA2 Version 1.0.0

ClinGen ENIGMA BRCA1 and BRCA2 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for BRCA2 Version 1.0.0
Rule Set:	Rules For BRCA2
Disease(s)	breast-ovarian cancer, familial, susceptibility to, 2
Gene(s)	BRCA2
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen Monogenic Diabetes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for HNF1A Version 2.1.0

ClinGen Monogenic Diabetes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for HNF1A Version 2.1.0
Rule Set:	Rules For HNF1A
Disease(s)	monogenic diabetes
Gene(s)	HNF1A
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen Brain Malformations Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1.1.0

ClinGen Brain Malformations Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1.1.0
Rule Set:	Rules For AKT3, MTOR, PIK3CA, PIK3R2
Disease(s)	cerebral malformation
Gene(s)	AKT3, MTOR, PIK3CA, PIK3R2
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen Glaucoma Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1.1

ClinGen Glaucoma Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1.1
Rule Set:	Rules For MYOC
Disease(s)	obsolete glaucoma 1, open angle, E, juvenile open angle glaucoma
Gene(s)	MYOC
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen Hereditary Breast, Ovarian and Pancreatic Cancer Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for ATM Version 1.1

ClinGen Hereditary Breast, Ovarian and Pancreatic Cancer Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for ATM Version 1.1
Rule Set:	Rules For ATM
Disease(s)	hereditary breast carcinoma, ataxia telangiectasia, ataxia - telangiectasia variant
Gene(s)	ATM
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen ACADVL Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1

ClinGen ACADVL Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1
Rule Set:	Rules For ACADVL
Disease(s)	very long chain acyl-CoA dehydrogenase deficiency
Gene(s)	ACADVL
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen FBN1 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1

ClinGen FBN1 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1
Rule Set:	Rules For FBN1
Disease(s)	Marfan syndrome
Gene(s)	FBN1
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen Hearing Loss Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for OTOF and MYO15A Version 1

ClinGen Hearing Loss Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for OTOF and MYO15A Version 1
Rule Set:	Rules For MYO15A, OTOF
Disease(s)	nonsyndromic genetic hearing loss
Gene(s)	MYO15A, OTOF
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen DICER1 and miRNA-Processing Gene Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for DICER1 Version 1.2.0

ClinGen DICER1 and miRNA-Processing Gene Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for DICER1 Version 1.2.0
Rule Set:	Rules For DICER1
Disease(s)	DICER1-related tumor predisposition
Gene(s)	DICER1
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen Cerebral Creatine Deficiency Syndromes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for GATM Version 1.1.0

ClinGen Cerebral Creatine Deficiency Syndromes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for GATM Version 1.1.0
Rule Set:	Rules For GATM
Disease(s)	AGAT deficiency
Gene(s)	GATM
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen Cerebral Creatine Deficiency Syndromes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for GAMT Version 1.1.0

ClinGen Cerebral Creatine Deficiency Syndromes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for GAMT Version 1.1.0
Rule Set:	Rules For GAMT
Disease(s)	guanidinoacetate methyltransferase deficiency
Gene(s)	GAMT
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen Cerebral Creatine Deficiency Syndromes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SLC6A8 Version 1.1.0

ClinGen Cerebral Creatine Deficiency Syndromes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SLC6A8 Version 1.1.0
Rule Set:	Rules For SLC6A8
Disease(s)	creatine transporter deficiency
Gene(s)	SLC6A8
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen Rett and Angelman-like Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for TCF4 Version 3.0.0

ClinGen Rett and Angelman-like Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for TCF4 Version 3.0.0
Rule Set:	Rules For TCF4
Disease(s)	Pitt-Hopkins syndrome
Gene(s)	TCF4
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen Rett and Angelman-like Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SLC9A6 Version 3.0.0

ClinGen Rett and Angelman-like Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SLC9A6 Version 3.0.0
Rule Set:	Rules For SLC9A6
Disease(s)	Christianson syndrome
Gene(s)	SLC9A6
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen Rett and Angelman-like Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for CDKL5 Version 3.0.0

ClinGen Rett and Angelman-like Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for CDKL5 Version 3.0.0
Rule Set:	Rules For CDKL5
Disease(s)	CDKL5 disorder
Gene(s)	CDKL5
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen Rett and Angelman-like Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for FOXG1 Version 3.0.0

ClinGen Rett and Angelman-like Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for FOXG1 Version 3.0.0
Rule Set:	Rules For FOXG1
Disease(s)	FOXG1 disorder
Gene(s)	FOXG1
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen Rett and Angelman-like Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MECP2 Version 3.0.0

ClinGen Rett and Angelman-like Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MECP2 Version 3.0.0
Rule Set:	Rules For MECP2
Disease(s)	Rett syndrome
Gene(s)	MECP2
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen Rett and Angelman-like Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for UBE3A Version 4.0.0

ClinGen Rett and Angelman-like Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for UBE3A Version 4.0.0
Rule Set:	Rules For UBE3A
Disease(s)	Angelman syndrome
Gene(s)	UBE3A
Genetype	nuclear
Criteria Code	Strength Specification