ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.5146G>C (p.Ala1716Pro)

dbSNP: rs1194776238
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Hematology, Radboud University Medical Center RCV002264839 SCV002546337 likely pathogenic von Willebrand disease type 1 2020-12-10 criteria provided, single submitter research
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico RCV002244536 SCV002513413 uncertain significance von Willebrand disease type 2 2022-04-26 no assertion criteria provided clinical testing

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