ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.2878C>T (p.Arg960Trp)

gnomAD frequency: 0.00004  dbSNP: rs370984712
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001335404 SCV001528548 uncertain significance von Willebrand disease type 1 2018-06-11 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Laboratory of Hematology, Radboud University Medical Center RCV001335404 SCV002546267 uncertain significance von Willebrand disease type 1 2020-12-10 criteria provided, single submitter research
Genetics and Molecular Pathology, SA Pathology RCV001335404 SCV002556921 uncertain significance von Willebrand disease type 1 2021-04-28 criteria provided, single submitter clinical testing
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV001335404 SCV002569247 uncertain significance von Willebrand disease type 1 criteria provided, single submitter clinical testing

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