ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.2072del (p.Pro691fs)

dbSNP: rs267607309
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV003447493 SCV004175559 pathogenic von Willebrand disease type 2 2020-12-11 criteria provided, single submitter clinical testing
Academic Unit of Haematology, University of Sheffield RCV000086587 SCV000118791 not provided not provided no assertion provided not provided

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