ClinVar Miner

Submissions for variant NM_001184.4(ATR):c.1950G>A (p.Glu650=) (rs28910270)

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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 RCV000145294 SCV000192371 benign not specified 2013-07-02 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000398572 SCV000441448 likely benign Seckel syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588919 SCV000697780 benign not provided 2016-04-27 criteria provided, single submitter clinical testing Variant summary: The ATR c.1950G>A variant affects a non-conserved nucleotide, resulting in no amino acid change. Mutation Taster predicts the variant is a polymorphism, and 3/5 Alamut algorithms predict no significant change in splicing. Additionally, the variant has been reported as a polymorphism in the literature (PMID: 26695994). This variant was found in 2283/120952 control chromosomes (48 homozygotes) at a frequency of 0.0188753, which is about 30200 times the maximal expected frequency of a pathogenic ATR allele (0.0000006), suggesting this variant is benign. Furthermore, one clinical laboratory classified this variant as benign. Taken together, this variant was classified as benign.

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