ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.1583A>G (p.Asn528Ser)

dbSNP: rs61754010
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000000346 SCV000020490 pathogenic Von Willebrand disease type 2A 2010-06-03 no assertion criteria provided literature only
Academic Unit of Haematology, University of Sheffield RCV000086569 SCV000118773 not provided not provided no assertion provided not provided
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico RCV002243608 SCV002513360 likely pathogenic von Willebrand disease type 2 2022-04-26 no assertion criteria provided clinical testing

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