ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.2500C>T (p.Arg834Cys) (rs3087425)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000122280 SCV000227777 benign not specified 2015-01-28 criteria provided, single submitter clinical testing
Invitae RCV000032137 SCV000285538 benign Werner syndrome 2020-12-06 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000032137 SCV001325359 likely benign Werner syndrome 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneReviews RCV000032137 SCV000055695 likely benign Werner syndrome 2021-05-10 no assertion criteria provided literature only Variant common in Latino population (heterozygote frequency of 0.02); significantly reduces helicase & exonuclease activity in vitro. Homozygotes do not exhibit a Werner syndrome phenotype
ITMI RCV000122280 SCV000086505 not provided not specified 2013-09-19 no assertion provided reference population

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