ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.2250+13A>G

dbSNP: rs1290519111
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000581249 SCV000687364 likely benign Hereditary cancer-predisposing syndrome 2017-05-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003767296 SCV004671971 likely benign Ataxia-telangiectasia syndrome 2023-08-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV000581249 SCV004849058 uncertain significance Hereditary cancer-predisposing syndrome 2015-02-26 criteria provided, single submitter clinical testing The c.2250+13A>G intronic alteration consists of a A to G substitution 3 nucleotides after coding exon 13 in the ATM gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.