ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.4741del (p.Ile1581fs)

dbSNP: rs864622164
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001580632 SCV001810278 likely pathogenic Ataxia-telangiectasia syndrome 2021-07-22 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004039466 SCV004931927 pathogenic Familial cancer of breast 2024-01-29 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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.