ClinVar Miner

Submissions for variant NM_000170.3(GLDC):c.1974C>A (p.Ala658=)

gnomAD frequency: 0.00014  dbSNP: rs534062853
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000934232 SCV001079950 likely benign Glycine encephalopathy 2024-12-12 criteria provided, single submitter clinical testing
GeneDx RCV001568052 SCV001791851 likely benign not provided 2020-06-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV000934232 SCV001462758 uncertain significance Glycine encephalopathy 2020-01-17 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.