ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.496G>C (p.Glu166Gln)

dbSNP: rs1565357473
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neurology, Jichi Medical University RCV000852350 SCV000897687 pathogenic Ataxia-telangiectasia syndrome 2019-04-05 criteria provided, single submitter clinical testing late-onset variant ataxia-telangiectasia

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.