ClinVar Miner

Submissions for variant NM_005591.3(MRE11):c.1098+17T>C (rs1805365)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000128913 SCV000172780 benign Hereditary cancer-predisposing syndrome 2012-09-25 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000251662 SCV000311117 benign not specified criteria provided, single submitter clinical testing
Counsyl RCV000409241 SCV000488544 benign Ataxia-telangiectasia-like disorder 1 2016-06-08 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000587873 SCV000698601 benign not provided 2016-05-04 criteria provided, single submitter clinical testing Variant summary: The c.1098+17T>C variant affects a non-conserved intronic nucleotide at a position not widely known to affect normal splicing. MutationTaster predicts benign outcome for this variant. 5/5 splice-tools in Alamut predict that this variant does not affect normal splicing. This variant is found in 3285/120390 control chromosomes from ExAC (including 139 homozygotes) at a frequency of 0.0272863, which is about 437 times greater than the maximal expected frequency of a pathogenic allele (0.0000625), suggesting this variant is a benign common polymorphism. Taken together, this variant has been classified as Benign.

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