ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.7085G>T (p.Cys2362Phe)

dbSNP: rs61750630
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000000343 SCV000020487 pathogenic von Willebrand disease type 3 2006-05-01 no assertion criteria provided literature only
Academic Unit of Haematology, University of Sheffield RCV000086870 SCV000119076 not provided not provided no assertion provided not provided
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico RCV000000343 SCV001572734 pathogenic von Willebrand disease type 3 2020-11-01 no assertion criteria provided clinical testing ClinGen Pathogenicity Calculator

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