ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.2279G>A (p.Arg760His)

gnomAD frequency: 0.00003  dbSNP: rs61748467
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000024003 SCV000045294 pathogenic von Willebrand disease type 1 2009-10-15 no assertion criteria provided literature only
Academic Unit of Haematology, University of Sheffield RCV000086595 SCV000118799 not provided not provided no assertion provided not provided

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