ClinVar Miner

Submissions for variant NM_000552.4(VWF):c.2516del (p.Gly839fs) (rs61748481)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV000852089 SCV000899630 likely pathogenic Von Willebrand disease, recessive form 2019-02-01 criteria provided, single submitter research
Academic Unit of Haematology, University of Sheffield RCV000086616 SCV000118820 not provided not provided no assertion provided not provided
Birmingham Platelet Group; University of Birmingham RCV001270518 SCV001450817 pathogenic Abnormal bleeding; Thrombocytopenia 2020-05-01 no assertion criteria provided research
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center,Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico RCV000852089 SCV001572664 pathogenic Von Willebrand disease, recessive form 2021-04-12 no assertion criteria provided clinical testing

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