ClinVar Miner

Submissions for variant NM_000553.4(WRN):c.3138+6C>T (rs3024239)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000836718 SCV000978564 benign not provided 2018-03-24 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.
Genetic Services Laboratory, University of Chicago RCV000118872 SCV000153541 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.
Illumina Clinical Services Laboratory,Illumina RCV000294562 SCV000473343 benign Werner syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000294562 SCV000473345 benign Werner syndrome 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000118872 SCV000305349 benign not specified criteria provided, single submitter clinical testing

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