ClinVar Miner

Submissions for variant NC_000017.10:g.(?_44845686)_(45016126_?)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 RCV001972866 SCV002240135 pathogenic Progressive myoclonic epilepsy 2022-02-05 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with GOSR2-related conditions. A gross deletion of the genomic region encompassing the full coding sequence of the GOSR2 gene has been identified. Loss-of-function variants in GOSR2 are known to be pathogenic (PMID: 21549339). The boundaries of this event are unknown as they extend 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.