Please note this is an alpha 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 tesing. 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.
- Entry page listing for all approved (Step 4) Criteria Specifications as of June 2021.
- Feature to search Specifications by gene, disease, VCEP name, approval date, or version
- Detailed view of each Specification.
- View summarising criteria codes across multiple VCEP Specifications.
- Downloadable content in JSON, JSON-LD, CSV, TSV and PDF formats.
- Publicly accessible REST APIs for both JSON & JSON-LD representation of a Specification.