Showing 1 to 2 of 2 rows
See Report
Preferred Variant Title
Classification
Condition
Published Date
Version
Criteria Specification
Gene
View NM_000552.5(VWF):c.8317T>C (p.Cys2773Arg)
Pathogenic
von Willebrand disease type 2A2024-08-13
1.1
ClinGen von Willebrand Disease Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for VWF Version 1.0.0VWF
View NM_000552.5(VWF):c.8317T>C (p.Cys2773Arg)
Pathogenic
von Willebrand disease type 2A2024-08-13
1.0
ClinGen von Willebrand Disease Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for VWF Version 1.0.0VWF
Showing 1 to 2 of 2 rows