ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.1607T>C (p.Leu536Pro)

dbSNP: rs1591890769
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV000852041 SCV000899533 likely pathogenic Hereditary von Willebrand disease 2019-02-01 criteria provided, single submitter research
Laboratory of Hematology, Radboud University Medical Center RCV002264736 SCV002546342 likely pathogenic von Willebrand disease type 2 2020-11-28 criteria provided, single submitter research
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV002264736 SCV002569266 likely pathogenic von Willebrand disease type 2 criteria provided, single submitter clinical testing

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