ClinVar Miner

Submissions for variant NM_005591.3(MRE11):c.315-14dup (rs35062043)

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
Ambry Genetics RCV000162501 SCV000212889 likely benign Hereditary cancer-predisposing syndrome 2013-06-06 criteria provided, single submitter clinical testing
Counsyl RCV000410959 SCV000488540 benign Ataxia-telangiectasia-like disorder 1 2016-06-08 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588749 SCV000698607 benign not provided 2016-05-06 criteria provided, single submitter clinical testing Variant summary: The c.315-4dupT variant affects a non-conserved intronic nucleotide. 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 6069/84106 control chromosomes (including 57 homozygotes) from ExAC at a frequency of 0.0721589, which is about 1155 times greater than the maximal expected frequency of a pathogenic allele (0.0000625) in this gene, suggesting this variant is benign. In addition, two clinical laboratory/reputable database have classified this variant as benign/likely benign. Taken together, this variant has been classified as Benign.
Invitae RCV000162501 SCV000252798 benign Hereditary cancer-predisposing syndrome 2017-01-26 criteria provided, single submitter clinical testing

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.