ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.4492T>C (p.Leu1498=) (rs748949478)

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 RCV000163758 SCV000214335 likely benign Hereditary cancer-predisposing syndrome 2014-10-08 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000761806 SCV000892005 uncertain significance not provided 2018-09-30 criteria provided, single submitter clinical testing
Color RCV000163758 SCV000682211 likely benign Hereditary cancer-predisposing syndrome 2017-02-18 criteria provided, single submitter clinical testing
Invitae RCV000203764 SCV000259889 likely benign Ataxia-telangiectasia syndrome 2017-11-30 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.