ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.8216G>A (p.Cys2739Tyr)

gnomAD frequency: 0.00001  dbSNP: rs61751305
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Academic Unit of Haematology, University of Sheffield RCV000086909 SCV000119115 not provided not provided no assertion provided not provided
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico RCV001787083 SCV001572761 likely pathogenic von Willebrand disease type 3 2020-11-01 no assertion criteria provided clinical testing ClinGen Pathogenicity Calculator

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