ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.2097G>A (p.Ser699=)

gnomAD frequency: 0.00001  dbSNP: rs200490682
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000635386 SCV000756796 likely benign GNE myopathy; Sialuria 2024-12-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004691980 SCV005195421 uncertain significance not provided criteria provided, single submitter not provided
Natera, Inc. RCV001829785 SCV002075615 uncertain significance GNE myopathy 2019-10-28 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004748874 SCV005356436 likely benign GNE-related disorder 2024-05-01 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.