ClinVar Miner

Submissions for variant NM_000553.4(WRN):c.4099T>C (p.Cys1367Arg) (rs1346044)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000118880 SCV000229693 benign not specified 2014-10-14 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000118880 SCV000305357 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000273969 SCV000473359 likely benign Werner syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000835594 SCV000977389 benign not provided 2018-05-17 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Mendelics RCV000273969 SCV001137605 benign Werner syndrome 2019-05-28 criteria provided, single submitter clinical testing
ITMI RCV000118880 SCV000086527 not provided not specified 2013-09-19 no assertion provided reference population
Genetic Services Laboratory, University of Chicago RCV000118880 SCV000153549 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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