Please note this is a beta 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 testing. 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.
- Formating of the exiting specifications corrected for the UI.
- Affiliation UI page added to list all the specification with the affiliaton ID.
- Criteria specification version increment for TP53, Lysosomal Storage Disorders and Familial Hypercholesterolemia VCEPs.
- Added specification for the newly approved Brain Malformations VCEP.
- Added specification for the newly approved Monogenic Diabetes VCEP.
- Version increment for CDH1, Myeloid Malignancy and Platelet Disorders VCEPs.
- UI bug fixes for the summary view.
- Added specification for the newly approved Glaucoma VCEP.