ClinVar Miner

Submissions for variant NM_000552.4(VWF):c.6846A>G (p.Thr2282=) (rs1053523)

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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 RCV000247797 SCV000305331 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000315793 SCV000380570 likely benign von Willebrand disorder 2016-06-14 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV001355962 SCV001550998 uncertain significance not provided no assertion criteria provided clinical testing Allele frequency is common in at least one population database (frequency: 19.693% in gnomAD_Exomes) 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. A synonymous variant not located in a splice region.

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