ClinVar Miner

Submissions for variant NC_000019.9:g.(?_1220366)_(1220510_?)del

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 RCV001386947 SCV001587357 pathogenic Peutz-Jeghers syndrome 2015-12-08 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. While this particular copy number variant has not been reported in the literature, gross deletions in STK11 are known to be pathogenic and similar deletions have been reported (PMID: 14970844, 20623358). A gross deletion of the genomic region encompassing the full coding sequence (exons 1-9) of the STK11 gene has been identified.  Exon 10 is non-coding and is not covered by our assay. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes.

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.