ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.3842T>C (p.Leu1281Pro)

dbSNP: rs1591863438
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV000851985 SCV000899698 uncertain significance von Willebrand disease type 2 2019-02-01 criteria provided, single submitter research
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV002222051 SCV002499573 likely pathogenic von Willebrand disease type 1 criteria provided, single submitter clinical testing

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