ClinVar Miner

Submissions for variant NM_000170.3(GLDC):c.3002C>A (p.Thr1001Asn)

gnomAD frequency: 0.00001  dbSNP: rs555776146
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 RCV000896925 SCV001041038 likely benign Glycine encephalopathy 2025-01-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV000896925 SCV001458628 benign Glycine encephalopathy 2020-01-01 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702747 SCV001929211 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001702747 SCV001966673 likely benign not provided 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.