ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.1679A>G (p.Gln560Arg)

gnomAD frequency: 0.00001  dbSNP: rs754526458
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759381 SCV000888673 uncertain significance not provided 2017-12-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005004403 SCV005629988 uncertain significance von Willebrand disease type 1; von Willebrand disease type 3; von Willebrand disease type 2 2024-06-04 criteria provided, single submitter clinical testing

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