ClinVar Miner

Submissions for variant NC_000007.13:g.(?_124464010)_(124499172_?)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 RCV000708168 SCV000837278 uncertain significance Tumor predisposition syndrome 3 2018-03-09 criteria provided, single submitter clinical testing This variant is a gross duplication of the genomic region encompassing exons 9-19 of the POT1 gene. While the exact position of the duplicated exons cannot be determined from this data, sub-genic duplications are generally in tandem (PMID: 25640679). This duplication would be expected to be in-frame, preserving the integrity of the reading frame. This variant has not been reported in the literature in individuals with POT1-related disease. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it 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.