ClinVar Miner

Submissions for variant NM_001184.4(ATR):c.4153-21dup (rs112116713)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000176380 SCV000228028 benign not specified 2014-11-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000314708 SCV000441432 uncertain significance Seckel syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America 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.

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