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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_000552.5(VWF):c.3445T>C (p.Cys1149Arg) | Pathogenic | von Willebrand disease type 2A | 2024-08-09 | 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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