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

Browse Classifications by Gene
Expert Panel
Browse Classifications by Expert Panel
Browse Classifications by Condition


V1.0.13 NEW-FEATURE: Released new Cspec Engine microservice to generate computed assertions (2021-02-15)
V1.0.12 NEW-FEATURE: Published classifications from the 'Platelet Disorders VCEP' (2021-01-25)
V1.0.11 BUG-FIX: Reprocessed failed VCI messages (2020-08-07)
V1.0.10 NEW-FEATURE: Evidence Repository uses the new Criteria Specification Registry (2020-07-13)
V1.0.9 NEW-FEATURE: Entry page overhaul (2019-07-16)
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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