ClinVar Miner

Submissions for variant NM_001184.4(ATR):c.3120G>A (p.Leu1040=) (rs28910272)

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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 RCV000145301 SCV000192378 benign not specified 2013-07-02 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000327853 SCV000441438 likely benign Seckel syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000589121 SCV000697783 benign not provided 2016-04-28 criteria provided, single submitter clinical testing Variant summary: The variant of interest causes a synonymous change involving a conserved nucleotide with 4/5 in silico programs via Alamut predicting an effect on splicing, although these predictions have yet to be functionally assessed. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 2205/111476 (1/50 including 40 homozygotes), which exceeds the predicted maximum expected allele frequency for a pathogenic ATR variant of 1/1666666. In addition, a reputable clinical laboratory cites the variant as "benign." Therefore, taking all available lines of evidence into consideration, the variant of interest is classified as Benign.

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