ClinVar Miner

Submissions for variant NM_005591.4(MRE11):c.2049G>A (p.Gly683=)

gnomAD frequency: 0.00004  dbSNP: rs758931835
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000165700 SCV000216441 likely benign Hereditary cancer-predisposing syndrome 2014-09-02 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV000642471 SCV000764154 likely benign Ataxia-telangiectasia-like disorder 2021-10-28 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV001288237 SCV001475208 likely benign not provided 2019-12-26 criteria provided, single submitter clinical testing
GeneDx RCV001288237 SCV001939588 likely benign not provided 2021-04-20 criteria provided, single submitter clinical testing
Sema4,Sema4 RCV000165700 SCV002538416 likely benign Hereditary cancer-predisposing syndrome 2020-10-12 criteria provided, single submitter curation

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.