ClinVar Miner

Submissions for variant NM_001184.4(ATR):c.1326A>G (p.Lys442=) (rs28897765)

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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 RCV000145288 SCV000192365 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000365738 SCV000441453 likely benign Seckel syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588029 SCV000697771 benign not provided 2016-04-27 criteria provided, single submitter clinical testing Variant summary: The c.1326A>G variant affects a non-conserved nucleotide, resulting in a synonymous mutation. Mutation taster predicts benign outcome for this variant along with 4/5 in silico tools via Alamut predicting the variant not to have an impact on normal splicing. This variant is found in 2299/121410 control chromosomes (48 homozygotes) at a frequency of 0.0189358, which is about 30297 times of the maximal expected frequency of a pathogenic allele (0.0000006), suggesting this variant is benign. In addition, a clinical laboratory classifies this variant as benign (without evidence to independently evaluate). Taken together, this variant was classified as Benign.

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