ClinVar Miner

Submissions for variant NM_001128227.3(GNE):c.51+34T>C

gnomAD frequency: 0.75717  dbSNP: rs7875447
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000248651 SCV000306731 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000841218 SCV000983176 benign not provided 2018-06-14 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000248651 SCV001623112 benign not specified 2021-04-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001543756 SCV001762610 benign Sialuria 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001274435 SCV001762611 benign GNE myopathy 2021-07-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000841218 SCV005265635 benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001274435 SCV001458617 benign GNE myopathy 2020-01-03 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.