ClinVar Miner

Submissions for variant NM_000552.4(VWF):c.4141A>G (p.Thr1381Ala) (rs216311)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000251458 SCV000305312 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000337059 SCV000380599 likely benign von Willebrand disorder 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001282644 SCV000605567 benign none provided 2020-08-21 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV001354682 SCV001549358 uncertain significance not provided no assertion criteria provided clinical testing Allele frequency is common in at least one population database (frequency: 89.735% 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.

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