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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.

About

  • The ClinGen Criteria Specification (CSpec) Registry UI displays Criteria Specifications from approved ClinGen Variant Curation Expert Panels (VCEPs) for the genes under analysis to the 2015 American College of Medical Genetics and Genomics (ACMG) and Association for Molecular Pathology (AMP) recommendation for sequence variant interpretation. PubMed
  • The CSpec Registry is a centralized database designed for the management and maintenance of Criteria Specifications, defined by the ClinGen VCEPs.
  • The CSpec Registry supports the storage of the VCEP Criteria Specifications in a structured, machine readable format. Please visit the version history page to learn about the available features included in the latest version of the CSpec Registry and UI release.
  • All the Criteria Specifications featured in the CSpec Registry - v1.0.0 have been approved by the ClinGen Clinical Domain Working Group Oversight Committee and the ClinGen Sequence Variant Interpretation VCEP Review Committee. For additional information regarding the VCEP application and review process, please refer to this documentation.
  • Coming Soon! In the future, the CSpec Editor will:
    • Enable VCEP coordinators and other members to create and update Criteria Specifications.
    • Track content changes and review status throughout the approval process.
    • Allow VCEP coordinators to release an approved Criteria Specification to the public.
    • Support additional attributes of the Specifications, including rules for combining criteria, file attachments, etc.
For questions about the CSpec Registry, please contact brl-cspec at bcm dot edu . For questions about the ClinGen Expert Panel application process, please contact cdwg_oversightcommittee at clinicalgenome dot org