ClinVar Miner

Submissions for variant NM_000552.4(VWF):c.4641T>C (p.Thr1547=) (rs216310)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000247964 SCV000305314 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000342418 SCV000380596 likely benign von Willebrand disorder 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001282645 SCV000605568 benign none provided 2020-08-21 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000755439 SCV000888702 benign not provided 2018-04-10 criteria provided, single submitter clinical testing
Invitae RCV000755439 SCV001093586 likely benign not provided 2017-05-17 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000247964 SCV001653061 benign not specified 2020-07-03 criteria provided, single submitter clinical testing The p.Thr1547Thr variant in VWF is classified as benign because it does not alter an amino acid residue, is not located within the splice consensus site, and computational splice prediction tools do not predict an impact on splicing. It has been identified in 90% (22058/24566) of African chromosomes by gnomAD (http://gnomad.broadinstitute.org). ACMG/AMP Criteria applied: BA1, BP4, BP7.
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000755439 SCV001550317 uncertain significance not provided no assertion criteria provided clinical testing Allele frequency is common in at least one population database (frequency: 90.157% 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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