ClinVar Miner

Submissions for variant NM_005591.3(MRE11):c.1994+10G>A (rs1805366)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000586722 SCV000262321 benign not provided 2019-02-20 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000298889 SCV000374922 likely benign Ataxia-telangiectasia-like disorder 1 2016-06-14 criteria provided, single submitter clinical testing
Counsyl RCV000298889 SCV000488656 benign Ataxia-telangiectasia-like disorder 1 2016-06-08 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586722 SCV000698606 benign not provided 2017-08-16 criteria provided, single submitter clinical testing Variant summary: c.1994+10G>A in MRE11A gene is an intronic change that involves a non-conserved nucleotide. 4/5 programs in Alamut predict that this variant does not affect a 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 0.00317 (384/121126 chrs tested), predominantly in individuals of African descent (0.03533; 366/ 10360 chrs tested). The observed frequency exceeds the maximum expected allele frequency for a pathogenic variant of 0.0000625, suggesting that it is a common polymorphism. The variant of interest has not, to our knowledge, been reported in affected individuals in published reports but is cited as Likely Benign/Benign by reputable databases/clinical laboratory. Taking together, the variant was classified as Benign.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.