ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.3802C>G (p.His1268Asp)

dbSNP: rs61749371
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV000086678 SCV005414049 pathogenic not provided 2024-05-31 criteria provided, single submitter clinical testing PP5, PM1_supporting, PM2_moderate, PS3, PS4_moderate
Academic Unit of Haematology, University of Sheffield RCV000086678 SCV000118882 not provided not provided no assertion provided not provided
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico RCV002243726 SCV002513378 likely pathogenic von Willebrand disease type 2 2022-04-26 no assertion criteria provided clinical testing
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV002243727 SCV002515761 likely pathogenic Hereditary von Willebrand disease no assertion criteria provided clinical testing

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