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See Report
Preferred Variant Title
Classification
Condition
Published Date
Version
Criteria Specification
Gene
View NM_000552.4(VWF):c.3970G>A (p.Gly1324Ser)
Pathogenic
von Willebrand disease type 2M2024-08-13
1.0
ClinGen von Willebrand Disease Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for VWF Version 1.0.0VWF
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