ClinVar Miner

Submissions for variant NM_005591.3(MRE11):c.1225+19T>C (rs641936)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000174111 SCV000225354 benign not specified 2015-03-04 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000174111 SCV000311118 benign not specified criteria provided, single submitter clinical testing
Counsyl RCV000412379 SCV000488518 benign Ataxia-telangiectasia-like disorder 1 2016-04-14 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000586234 SCV000698603 benign not provided 2016-05-04 criteria provided, single submitter clinical testing Variant summary: c.1225+19T>C in MRE11A gene is an intronic change that involves a non-conserved nucleotide. 5/5 programs in Alamut predict that this variant does not affect normal splicing, however no functional studies supporting this notion were published at the time of evaluation. The variant is present in the control population dataset of ExAC at frequency of 0.378 (45400/120008 chrs tested), including numerous homozygous occurrence. The observed frequencies exceed the maximum expected allele frequency for a pathogenic variant of 0.006%, suggesting that it is a benign polymorphism. The variant of interest has been reported as Benign/Polymorphism by reputable databases/clinical laboratory and in published reports (Bartkova, 2008). Taking together, based on the prevalence of this variant in general population the variant was classified as Benign.
GeneDx RCV000586234 SCV001759925 benign not provided 2015-03-03 criteria provided, single submitter clinical testing

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