ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.4779A>G (p.Glu1593=) (rs587778076)

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 RCV000164622 SCV000215286 likely benign Hereditary cancer-predisposing syndrome 2014-07-02 criteria provided, single submitter clinical testing
Color RCV000164622 SCV000682220 likely benign Hereditary cancer-predisposing syndrome 2016-12-12 criteria provided, single submitter clinical testing
GeneDx RCV000841327 SCV000983288 likely benign not provided 2018-05-23 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.
ITMI RCV000120141 SCV000084281 not provided not specified 2013-09-19 no assertion provided reference population
Invitae RCV000628235 SCV000749130 likely benign Ataxia-telangiectasia syndrome 2017-11-26 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.