ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.1572G>A (p.Ala524=)

gnomAD frequency: 0.00004  dbSNP: rs112824871
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000733062 SCV000861081 uncertain significance not provided 2018-04-25 criteria provided, single submitter clinical testing
Invitae RCV001059873 SCV001224526 likely benign GNE myopathy; Sialuria 2023-12-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV001273951 SCV001457578 uncertain significance GNE myopathy 2019-10-28 no assertion criteria provided clinical testing

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.