ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.1339C>T (p.Arg447Trp)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV002280972 SCV002569257 uncertain significance von Willebrand disease type 2 criteria provided, single submitter clinical testing
GeneDx RCV003329442 SCV004036369 uncertain significance not provided 2023-03-24 criteria provided, single submitter clinical testing Reported in association with type 3 von Willebrand disease in the published literature, although additional clinical information and familial segregation data were not provided (Veyradier et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 26986123)

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