ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.(?_-1)_4109+?dup

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
Invitae RCV000206521 SCV000260736 uncertain significance Ataxia-telangiectasia syndrome 2015-09-19 criteria provided, single submitter clinical testing This sequence change is a gross duplication of the genomic region encompassing exons 2 (the first coding exon) through 27 of the ATM gene. This duplication extends beyond the edge of the assayed region, and the 5' boundary of this event is not known. Furthermore, the exact position of the duplicated exons cannot be determined from this data, and may or may not be in tandem. This gross duplication event has not been reported in the literature. For these reasons, this variant has been classified as a Variant of Uncertain Significance.

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.