ClinVar Miner

Submissions for variant NC_000007.13:g.(?_6026384)_(6027257_?)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 RCV000538685 SCV000624584 pathogenic Hereditary nonpolyposis colorectal neoplasms 2017-03-20 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon 11 of the PMS2 gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. Loss-of-function variants in PMS2 are known to be pathogenic. A similar deletion of exon 11 has been reported in an individual with suspected Lynch syndrome (PMID: 25512458). For these reasons, this variant has been classified as Pathogenic.

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.