ClinVar Miner

Submissions for variant NM_000552.4(VWF):c.7408C>T (p.Gln2470Ter) (rs61751288)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV000852206 SCV000899895 likely pathogenic von Willebrand disorder 2019-02-01 criteria provided, single submitter research
Academic Unit of Haematology, University of Sheffield RCV000086882 SCV000119088 not provided not provided no assertion provided not provided
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center,Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico RCV001375833 SCV001572741 likely pathogenic Von Willebrand disease, recessive form 2020-11-01 no assertion criteria provided clinical testing variant already reported in ClinVar

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