ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.4944del (p.Ile1649fs)

gnomAD frequency: 0.00002  dbSNP: rs61750591
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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 RCV000086816 SCV000119022 not provided not provided no assertion provided not provided
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico RCV001787061 SCV001572697 uncertain significance von Willebrand disease type 3 2021-04-12 no assertion criteria provided clinical testing

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