Evidence Repository

The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]

Curation History

Variant: CA114125 289

VCEP: von Willebrand Disease VCEP

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See Report	Preferred Variant Title	Classification	Condition	Published Date	Version	Criteria Specification	Gene
View	NM_000552.4(VWF):c.3922C>T (p.Arg1308Cys)	Pathogenic	von Willebrand disease type 2B	2024-08-19	1.3	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.3922C>T (p.Arg1308Cys)	Pathogenic	von Willebrand disease type 2B	2024-08-12	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.3922C>T (p.Arg1308Cys)	Pathogenic	von Willebrand disease type 2B	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.3922C>T (p.Arg1308Cys)	Pathogenic	von Willebrand disease type 2B	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

Showing 1 to 4 of 4 rows

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