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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_000552.4(VWF):c.4789C>T (p.Arg1597Trp) | Pathogenic | von Willebrand disease type 2A | 2024-08-19 | 1.2 | ClinGen von Willebrand Disease Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for VWF Version 1.0.0 | VWF |
| View | NM_000552.4(VWF):c.4789C>T (p.Arg1597Trp) | Pathogenic | von Willebrand disease type 2A | 2024-08-12 | 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_000552.4(VWF):c.4789C>T (p.Arg1597Trp) | Pathogenic | von Willebrand disease type 2A | 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 |
Showing 1 to 3 of 3 rows