ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.4994T>A (p.Val1665Glu)

dbSNP: rs61750596
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
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 RCV000086822 SCV000119028 not provided not provided no assertion provided not provided
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico RCV002243744 SCV002513359 likely pathogenic von Willebrand disease type 2 2022-04-26 no assertion criteria provided clinical testing

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