The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]

Gene
Browse Classifications by Gene
Expert Panel
Browse Classifications by Expert Panel
Condition
Browse Classifications by Condition
Classification Summary for 8798 Curated Variants
Across 101 Genes
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News

V1.0.32 NEW-FEATURE: Integrated document versions for all interpretations. (2024-10-30)
V1.0.31 NEW-FEATURE: Moved Approval and Publication dates in each interpretation page (2024-07-05)
V1.0.30 NEW-FEATURE: Updated API documentation for Evidence Repository (2024-05-07)
V1.0.29 NEW-FEATURE: Added document versioning system (2024-04-02)
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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