ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.7082-2A>G

dbSNP: rs267607358
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Academic Unit of Haematology, University of Sheffield RCV000086869 SCV000119075 not provided not provided no assertion provided not provided
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico RCV001787070 SCV001572733 likely pathogenic von Willebrand disease type 3 2020-11-01 no assertion criteria provided clinical testing ClinGen Pathogenicity Calculator

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