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Please note this is a beta version of the ClinGen Evidence Repository. This resource is intended to provide access to variant level evidence used and applied by ClinGen Variant Curation Expert Panels in the classification of variants. In this beta version, the evidence is limited to curation notes and referenced literature (PMIDs).

For general information about ClinGen Expert Panels and Variant Curation please visit: Clinical Domain Working Groups. For specific inquiries regarding a variant classification or evidence curation (e.g. population database queried, segregation counts or other evidence used) or to submit general comments about the evidence repo, please email us.

The resource is undergoing updates and tesing. Should you encounter any issues regarding the data displayed, lack of functionality or other problems, please let us know so we can rectify these accordingly. Your help in this regard is greatly appreciated.

Evidence Repository Guidelines

ACMG 2015-Guidelines
Criteria Specification: JSON , PDF
MYH7-associated inherited cardiomyopathies - adapted from ACMG/AMP
Version: 1.0.0
VCEP: Cardiomyopathy VCEP
Criteria Specification: JSON , PDF
ACMG-PTEN Variant Curation Guideline
Version: 2.0.0
VCEP: PTEN VCEP
Criteria Specification: JSON , PDF
ACMG variant classification (RASopathy)
Version: 1.0.0
VCEP: RASopathy VCEP
Criteria Specification: JSON , PDF
Hearing Loss ACMG Specifications v1 2018
Version: 1.0.0
VCEP: Hearing Loss VCEP
Criteria Specification: JSON , PDF
ACMG variant classification (PAH)
Version: 1.0.0
VCEP: PAH VCEP
Criteria Specification: JSON , PDF
ClinGen CDH1 ACMG Specifications V2
Version: 2.0.0
VCEP: CDH1 VCEP
Criteria Specification: JSON , PDF
MM-VCEP ACMG/AMP specifications for RUNX1
Version: 1.0.0
VCEP: Myeloid Malignancy VCEP
Criteria Specification: JSON , PDF
TP53 VCEP ACMG/AMP Specifications
Version: 1.0.0
VCEP: TP53 VCEP
Criteria Specification: JSON , PDF
LSD VCEP ACMG/AMP Specifications
Version: 1.0.0
VCEP: Lysosomal Storage Disorders VCEP
Criteria Specification: JSON , PDF
ACMG variant classification Platelet Disorders
Version: 2.0.0
VCEP: Platelet Disorders VCEP
Criteria Specification: JSON , PDF
ACMG variant classification Malignant Hyperthermia
Version: 1.0.0
VCEP: Malignant Hyperthermia Susceptibility VCEP
Criteria Specification: JSON , PDF
ACMG variant classification Familial Hypercholesterolemia
Version: 1.0.0
VCEP: Familial Hypercholesterolemia VCEP
Criteria Specification: JSON , PDF
Mitochondrial Disease Nuclear and Mitochondrial Variant Interpretation Guidelines ntDNA
Version: 1.0.0
VCEP: Mitochondrial Diseases VCEP
Criteria Specification: JSON , PDF
Mitochondrial Disease Nuclear and Mitochondrial Variant Interpretation Guidelines mtDNA
Version: 1.0.0
VCEP: Mitochondrial Diseases VCEP
Criteria Specification: JSON , PDF
Rett and Angelman-like Disorders Variant Interpretation Guidelines
Version: 1.0.0
VCEP: Rett Angelman VCEP
Criteria Specification: JSON , PDF
The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. If you have questions about the information contained on this website, please see a health care professional.
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