ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.6551G>A (p.Cys2184Tyr)

dbSNP: rs2136385288
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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 RCV002223126 SCV002500923 likely pathogenic von Willebrand disease type 1 criteria provided, single submitter clinical testing
Laboratory of Hematology, Radboud University Medical Center RCV002223126 SCV002546348 likely pathogenic von Willebrand disease type 1 2020-12-10 criteria provided, single submitter research

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