ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.2393_2396dup (p.Cys799Ter)

dbSNP: rs2136440291
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico RCV001787194 SCV001572658 pathogenic von Willebrand disease type 3 2021-04-12 no assertion criteria provided clinical testing

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