ClinVar Miner

Submissions for variant NM_000552.4(VWF):c.1451A>G (p.His484Arg) (rs1800378)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000249735 SCV000305283 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000390452 SCV000380643 likely benign von Willebrand disorder 2016-06-14 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV001357216 SCV001552610 uncertain significance not provided no assertion criteria provided clinical testing Allele frequency is common in at least one population database (frequency: 73.314% in gnomAD_ExomesFounderPop) based on the frequency threshold of 0.5% for this gene. Variant was observed in a homozygous state in population databases more than expected for disease.

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