ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.6999A>G (p.Thr2333=) (rs759267807)

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 RCV000221555 SCV000276102 likely benign Hereditary cancer-predisposing syndrome 2015-05-29 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710679 SCV000840955 likely benign not provided 2018-08-06 criteria provided, single submitter clinical testing
GeneDx RCV000417756 SCV000525583 likely benign not specified 2017-03-12 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000225797 SCV000283032 likely benign Ataxia-telangiectasia syndrome 2016-03-20 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.