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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.
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Approval History
Variant Curation Expert Panel:
Genes:
ACVRL1
Title
Genes
Version
Released Date
ACVRL1
1.1.0
3/20/2024
ClinGen Hereditary Hemorrhagic Telangiectasia Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for ACVRL1 Version 1.0.0
Archived Document
ACVRL1
1.0.0
3/5/2024