ClinVar Miner

Submissions for variant NC_000010.11:g.(?_52161869)_(52161983_?)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
Labcorp Genetics (formerly Invitae), Labcorp RCV000537779 SCV000659227 uncertain significance Aortic aneurysm, familial thoracic 8 2017-05-27 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with PRKG1-related disease. In summary, this variant has uncertain impact on PRKG1 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids is currently unknown. This variant is an in-frame deletion of the genomic region encompassing exon 9 of the PRKG1 gene. It preserves the integrity of the reading frame.

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.