ClinVar Miner

Submissions for variant NC_000005.9:g.(?_112090582)_(112137086_?)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
Labcorp Genetics (formerly Invitae), Labcorp RCV001378396 SCV001575949 likely pathogenic Familial adenomatous polyposis 1 2015-11-20 criteria provided, single submitter clinical testing This variant is a gross duplication of the genomic region encompassing exons 2-8 of the APC gene. The 5' boundary is likely confined to the intronic region between exons 1-2 and the 3' end of this event is likely confined to intronic region between exons 8-9. It may occur in tandem and result in an absent or disrupted protein product. While this particular duplication has not been reported in the literature, truncating variants in APC are known to be pathogenic (PMID: 23159591). For these reasons, this variant has been classified as Likely 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.