ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.2018_2019del (p.Ser673fs)

dbSNP: rs61748462
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Palindrome, Gene Kavoshgaran Aria RCV001787170 SCV004814206 pathogenic von Willebrand disease type 3 2024-02-29 criteria provided, single submitter clinical testing
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico RCV001787170 SCV001572643 pathogenic von Willebrand disease type 3 2021-04-12 no assertion criteria provided clinical testing

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