ClinVar Miner

Submissions for variant NM_000552.4(VWF):c.3467C>T (p.Thr1156Met) (rs267607328)

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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 RCV000851957 SCV000899380 likely pathogenic von Willebrand disorder 2019-02-01 criteria provided, single submitter research
Academic Unit of Haematology, University of Sheffield RCV000086659 SCV000118863 not provided not provided no assertion provided not provided
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center,Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico RCV001375823 SCV001572681 likely pathogenic Von Willebrand disease, recessive form 2020-11-01 no assertion criteria provided clinical testing ClinGen Pathogenicity Calculator

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