ClinVar Miner

Submissions for variant NM_001184.4(ATR):c.293-20C>T (rs115097590)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000587360 SCV000697782 benign not provided 2016-04-26 criteria provided, single submitter clinical testing Variant summary: The c.293-20C>T variant affects a non-conserved intronic nucleotide. Mutation taster predicts benign outcome for this variant. 4/5 programs in Alamut predict that this variant does not affect normal splicing. This variant is found in 1712/113572 control chromosomes (17 homozygotes) at a frequency of 0.0150741, which is about 24119 times of the maximal expected frequency of a pathogenic allele (0.0000006), suggesting this variant is benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant was classified as Benign.

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