ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.3159G>T (p.Gln1053His)

gnomAD frequency: 0.00002  dbSNP: rs61748496
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ClinVar version:
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 RCV003447495 SCV004175558 likely pathogenic von Willebrand disease type 2 2020-11-13 criteria provided, single submitter clinical testing
Academic Unit of Haematology, University of Sheffield RCV000086639 SCV000118843 not provided not provided no assertion provided not provided

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