ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.5096C>T (p.Ser1699Phe)

dbSNP: rs2136409487
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Hematology, Radboud University Medical Center RCV002264781 SCV002546336 likely pathogenic von Willebrand disease type 2 2020-12-10 criteria provided, single submitter research
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico RCV001787176 SCV001572702 uncertain significance von Willebrand disease type 3 2020-11-01 no assertion criteria provided clinical testing ClinGen Pathogenicity Calculator

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