ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.3940del (p.Val1314fs)

dbSNP: rs2136413513
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV002275715 SCV002563097 pathogenic not provided 2020-09-01 criteria provided, single submitter clinical testing
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico RCV001787134 SCV001572688 pathogenic von Willebrand disease type 3 2021-04-12 no assertion criteria provided clinical testing

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