ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.6807+238G>C (rs609429)

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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 RCV000779777 SCV000916567 benign not specified 2018-03-27 criteria provided, single submitter clinical testing Variant summary: ATM c.6807+238G>C is located at a position not widely known to affect splicing. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.53 in 30856 control chromosomes, suggesting that it is the major allele and therefore benign. The observed variant frequency is approximately 133-folds higher than the estimated maximal expected allele frequency for a pathogenic variant in ATM causing Ataxia-Telangiectasia phenotype (0.004), strongly suggesting that the variant is benign. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as benign.

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