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Criteria Specification (CSpec) Registry is intended to provide access to the Criteria Specifications used and applied by ClinGen Variant Curation Expert Panels and biocurators in the classification of variants.
For general information about the 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.
Should you encounter any issues regarding the data displayed, lack of functionality or other problems, please let us know by contacting us via email.
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.
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
Funding Agency:
