ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.449T>C (p.Leu150Pro)

dbSNP: rs61753994
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV000851799 SCV000899751 likely pathogenic Hereditary von Willebrand disease 2019-02-01 criteria provided, single submitter research
Academic Unit of Haematology, University of Sheffield RCV000086768 SCV000118974 not provided not provided no assertion provided not provided
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico RCV001787058 SCV001572693 likely pathogenic von Willebrand disease type 3 2020-11-01 no assertion criteria provided clinical testing ClinGen Pathogenicity Calculator
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV000851799 SCV002515763 uncertain significance Hereditary von Willebrand disease no assertion criteria provided clinical testing

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