ClinVar Miner

Submissions for variant NM_001184.4(ATR):c.5208T>C (p.Tyr1736=) (rs2227931)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145318 SCV000192395 likely benign not specified 2013-08-15 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000271882 SCV000441420 benign Seckel syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000589245 SCV000697786 benign not provided 2016-04-27 criteria provided, single submitter clinical testing Variant summary: The c.5208C>T in ATR gene is a synonymous change that involves a non-conserved nucleotide. 5/5 programs in Alamut predict that this variant does not affect normal splicing. The variant is present in the control population dataset of ExAC at frequency of 36%. The observed frequency exceeds the maximum expected allele frequency for a pathogenic variant of 0.00006% in this gene, suggesting that it is a benign common polymorphism. The variant of interest has been reported as Benign/Polymorphism by a clinical laboratory and a published report (Durocher et al., 2006). Taken together, based on the prevalence in general population the variant was classified as Benign.

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