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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_000552.5(VWF):c.3941T>A (p.Val1314Asp) | Pathogenic | von Willebrand disease type 2B | 2024-08-13 | 1.1 | ClinGen von Willebrand Disease Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for VWF Version 1.0.0 | VWF |
| View | NM_000552.5(VWF):c.3941T>A (p.Val1314Asp) | Pathogenic | von Willebrand disease type 2B | 2024-08-13 | 1.0 | ClinGen von Willebrand Disease Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for VWF Version 1.0.0 | VWF |
Showing 1 to 2 of 2 rows