ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.3962A>G (p.Tyr1321Cys)

dbSNP: rs1591863294
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV000851773 SCV000899708 likely pathogenic von Willebrand disease type 2 2019-02-01 criteria provided, single submitter research
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico RCV000851773 SCV002513408 likely pathogenic von Willebrand disease type 2 2022-04-26 no assertion criteria provided clinical testing

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