ClinVar Miner

Submissions for variant NM_000552.4(VWF):c.3675-1G>A (rs746457842)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV000851978 SCV000899690 likely pathogenic Von Willebrand disease, recessive form 2019-02-01 criteria provided, single submitter research
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center,Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico RCV000851978 SCV001572683 likely pathogenic Von Willebrand disease, recessive form 2020-11-01 no assertion criteria provided clinical testing ClinGen Pathogenicity Calculator

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