ClinVar Miner

Submissions for variant NM_001184.4(ATR):c.2875G>A (p.Val959Met) (rs28910271)

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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 RCV000145300 SCV000192377 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000377847 SCV000441439 likely benign Seckel syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000590603 SCV000697781 benign not provided 2016-04-27 criteria provided, single submitter clinical testing Variant summary: The c.2875G>A variant involves the alteration of a non-conserved nucleotide and 4/4 in silico tools predict a neutral outcome. The variant was observed in the large, broad control population, ExAC, with an allele frequency of 1.9% which includes 48 homozygous occurrences, strong evidence this variant is a benign polymorphism. The variant has been reported as benign by a reputable clinical lab. Taken together, this variant has been classified as Benign.

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