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Please note this is a beta version of the Criteria Specification Registry. This resource is intended to provide
access to Criteria Specifications used and applied by ClinGen Variant Curation Expert Panels and biocurators in the
classification of variants.
For general information about 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.
This resource is undergoing updates and testing. Should you encounter any issues regarding the data displayed, lack
of functionality or other problems, please let us know by contacting us via email so we can rectify these accordingly. Your help in this regard is
greatly appreciated.
Criteria Specification Registry
Summary of Criteria Codes
ClinGen Familial Hypercholesterolemia Expert Panel Specifications to the ACMG/AMP Variant Classification Guidelines Version 1.2
Disease(s)
hypercholesterolemia, familial, 1
Gene(s)
LDLR
Genetype
nuclear
ClinGen Cardiomyopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1
Disease(s)
NA
Gene(s)
MYH7
Genetype
nuclear
ClinGen PTEN Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for PTEN Version 3.0.0
Disease(s)
NA
Gene(s)
PTEN
Genetype
nuclear
ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1
Disease(s)
NA
Gene(s)
SHOC2, NRAS, RAF1, SOS1, SOS2, PTPN11, KRAS, MAP2K1, HRAS, RIT1, MAP2K2, BRAF
Genetype
nuclear
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
Disease(s)
Usher syndrome, nonsyndromic genetic hearing loss, Pendred syndrome
Gene(s)
CDH23, COCH, GJB2, KCNQ4, MYO6, MYO7A, SLC26A4, TECTA, USH2A
Genetype
nuclear
ClinGen PAH Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1
Disease(s)
phenylketonuria
Gene(s)
PAH
Genetype
nuclear
ClinGen CDH1 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 3.1
Disease(s)
hereditary diffuse gastric adenocarcinoma
Gene(s)
CDH1
Genetype
nuclear
ClinGen Myeloid Malignancy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2
Disease(s)
hereditary thrombocytopenia and hematologic cancer predisposition syndrome
Gene(s)
RUNX1
Genetype
nuclear
ClinGen TP53 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for TP53 Version 1.3.0
Disease(s)
Li-Fraumeni syndrome
Gene(s)
TP53
Genetype
nuclear
ClinGen Lysosomal Storage Disorders Variant Curation Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2
Disease(s)
glycogen storage disease II
Gene(s)
GAA
Genetype
nuclear
ClinGen Platelet Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2.1
Disease(s)
Glanzmann thrombasthenia
Gene(s)
ITGA2B, ITGB3
Genetype
nuclear
ClinGen Malignant Hyperthermia Susceptibility Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for RYR1 Version 2
Disease(s)
malignant hyperthermia of anesthesia
Gene(s)
RYR1
Genetype
nuclear
ClinGen Mitochondrial Disease Nuclear and Mitochondrial Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1_ntDNA
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
ClinGen Mitochondrial Disease Nuclear and Mitochondrial Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1_mtDNA
Disease(s)
NA
Gene(s)
NA
Genetype
mitochondrial
ClinGen Rett and Angelman-like Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2
Disease(s)
CDKL5 disorder
FOXG1 disorder
Rett syndrome
Christianson syndrome
Pitt-Hopkins syndrome
Angelman syndrome
Gene(s)
CDKL5
FOXG1
MECP2
SLC9A6
TCF4
UBE3A
Genetype
nuclear
nuclear
nuclear
nuclear
nuclear
nuclear
ClinGen Hereditary Breast, Ovarian and Pancreatic Cancer Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for PALB2 Version 1.0.0
Disease(s)
hereditary breast carcinoma, familial pancreatic carcinoma, Fanconi anemia complementation group N
Gene(s)
PALB2
Genetype
nuclear
ClinGen Monogenic Diabetes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for HNF4A Version 1.0.0
Disease(s)
monogenic diabetes
Gene(s)
HNF4A
Genetype
nuclear
ClinGen Monogenic Diabetes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for GCK Version 1.1.0
Disease(s)
monogenic diabetes
Gene(s)
GCK
Genetype
nuclear
ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for APC Version 1.0.0
Disease(s)
NA
Gene(s)
APC
Genetype
nuclear
ClinGen Monogenic Diabetes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for HNF1A Version 2.0.0
Disease(s)
monogenic diabetes
Gene(s)
HNF1A
Genetype
nuclear
ClinGen Brain Malformations Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1.1.0
Disease(s)
cerebral malformation
Gene(s)
AKT3, MTOR, PIK3CA, PIK3R2
Genetype
nuclear
ClinGen Glaucoma Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1.1
Disease(s)
obsolete glaucoma 1, open angle, E, juvenile open angle glaucoma
Gene(s)
MYOC
Genetype
nuclear
ClinGen Hereditary Breast, Ovarian and Pancreatic Cancer Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for ATM Version 1.1
Disease(s)
hereditary breast carcinoma, ataxia telangiectasia, ataxia - telangiectasia variant
Gene(s)
ATM
Genetype
nuclear
ClinGen ACADVL Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1
Disease(s)
very long chain acyl-CoA dehydrogenase deficiency
Gene(s)
ACADVL
Genetype
nuclear
ClinGen FBN1 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1
Disease(s)
Marfan syndrome
Gene(s)
FBN1
Genetype
nuclear
ClinGen Hearing Loss Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for OTOF and MYO15A Version 1
Disease(s)
nonsyndromic genetic hearing loss
Gene(s)
MYO15A, OTOF
Genetype
nuclear
ClinGen DICER1 and miRNA-Processing Gene Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for DICER1 Version 1.1.0
Disease(s)
DICER1 syndrome
Gene(s)
DICER1
Genetype
nuclear
ClinGen Cerebral Creatine Deficiency Syndromes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for GATM Version 1.1.0
Disease(s)
AGAT deficiency
Gene(s)
GATM
Genetype
nuclear
ClinGen Cerebral Creatine Deficiency Syndromes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for GAMT Version 1.1.0
Disease(s)
guanidinoacetate methyltransferase deficiency
Gene(s)
GAMT
Genetype
nuclear
ClinGen Cerebral Creatine Deficiency Syndromes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SLC6A8 Version 1.1.0
Disease(s)
creatine transporter deficiency
Gene(s)
SLC6A8
Genetype
nuclear
ClinGen Rett and Angelman-like Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for UBE3A Version 3.0.0
Disease(s)
Angelman syndrome
Gene(s)
UBE3A
Genetype
nuclear
