The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
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Curation History
Variant: CA202695 161232
VCEP: Hereditary Hemorrhagic Telangiectasia VCEP
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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_001114753.3(ENG):c.392C>T (p.Pro131Leu) | Benign | telangiectasia, hereditary hemorrhagic, type 1 | 2024-03-15 | 1.0 | ClinGen Hereditary Hemorrhagic Telangiectasia Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for ENG Version 1.0.0 | ENG |
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