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: CA228504 100311
VCEP: von Willebrand Disease VCEP
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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
---|---|---|---|---|---|---|---|
View | NM_000552.5(VWF):c.3944G>A (p.Arg1315His) | Likely Pathogenic | von Willebrand disease type 2M | 2024-08-12 | 1.0 | ClinGen von Willebrand Disease Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for VWF Version 1.0.0 | VWF |
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