ClinVar Miner

Submissions for variant NM_000553.4(WRN):c.3222G>T (p.Leu1074Phe) (rs1801195)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000118877 SCV000153546 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.
ITMI RCV000118877 SCV000086512 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000281792 SCV000473348 benign Werner syndrome 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000118877 SCV000305351 benign not specified criteria provided, single submitter clinical testing

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