ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.788_811del (p.Cys263_Glu270del)

dbSNP: rs63749067
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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 RCV000851880 SCV000899929 likely pathogenic Hereditary von Willebrand disease 2019-02-01 criteria provided, single submitter research
Academic Unit of Haematology, University of Sheffield RCV000086900 SCV000119106 not provided not provided no assertion provided not provided

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