ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.2019G>A (p.Lys673=) (rs786203021)

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 RCV000166143 SCV000216915 likely benign Hereditary cancer-predisposing syndrome 2014-10-14 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 RCV000196447 SCV000252946 likely benign Ataxia-telangiectasia syndrome 2020-11-07 criteria provided, single submitter clinical testing
GeneDx RCV001711447 SCV000534804 likely benign not provided 2018-08-01 criteria provided, single submitter clinical testing
Color Health, Inc RCV000166143 SCV000682021 benign Hereditary cancer-predisposing syndrome 2016-04-19 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.