Evidence Repository
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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

ACMG2015-Guidelines
Pathogenic Evidence Codes 64
Benign Evidence Codes 28
MYH7-associated inherited cardiomyopathies - adapted from ACMG/AMP
Pathogenic Evidence Codes 16
Benign Evidence Codes 8
ACMG-PTEN Variant Curation Guideline
Pathogenic Evidence Codes 22
Benign Evidence Codes 13
ACMG variant classification (RASopathy)
Pathogenic Evidence Codes 21
Benign Evidence Codes 11
Hearing Loss ACMG Specifications v1 2018
Pathogenic Evidence Codes 31
Benign Evidence Codes 11
ACMG variant classification (PAH)
Pathogenic Evidence Codes 22
Benign Evidence Codes 9
ClinGen CDH1 ACMG Specifications V2
Pathogenic Evidence Codes 24
Benign Evidence Codes 11
MM-VCEP ACMG/AMP specifications for RUNX1
Pathogenic Evidence Codes 27
Benign Evidence Codes 8
TP53 VCEP ACMG/AMP Specifications
Pathogenic Evidence Codes 29
Benign Evidence Codes 10
LSD VCEP ACMG/AMP Specifications
Pathogenic Evidence Codes 20
Benign Evidence Codes 7
ACMG variant classification Platelet Disorders
Pathogenic Evidence Codes 27
Benign Evidence Codes 11
ACMG variant classification Malignant Hyperthermia
Pathogenic Evidence Codes 22
Benign Evidence Codes 9
ACMG variant classification Familial Hypercholesterolemia
Pathogenic Evidence Codes 25
Benign Evidence Codes 13
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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