ClinVar Miner

Submissions for variant NM_001184.4(ATR):c.4153-21dup

dbSNP: rs112116713
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000176380 SCV000228028 benign not specified 2014-11-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000314708 SCV000441432 uncertain significance Seckel syndrome 2016-06-14 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000587556 SCV000697785 benign not provided 2016-04-27 criteria provided, single submitter clinical testing Variant summary: The c.4153-10dupT variant affects a non-conserved intronic nucleotide. Mutation taster predicts benign outcome for this variant. 5/5 programs in Alamut predict that this variant does not affect normal splicing. This variant is found in 20106/81728 control chromosomes at a frequency of 0.2460112, which is about 393618 times of the maximal expected frequency of a pathogenic allele (0.0000006), suggesting this variant is benign. In addition, one clinical laboratory classified this variant as benign. Taken together, this variant was classified as Benign.
GeneDx RCV000587556 SCV001812075 likely benign not provided 2019-08-10 criteria provided, single submitter clinical testing

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