ClinVar Miner

Submissions for variant NM_000027.4(AGA):c.645A>G (p.Thr215=)

gnomAD frequency: 0.00004  dbSNP: rs201441868
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
Invitae RCV000979826 SCV001127773 likely benign Aspartylglucosaminuria 2024-01-11 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702872 SCV001931814 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001702872 SCV001968884 likely benign not provided no assertion criteria provided clinical testing
Natera, Inc. RCV000979826 SCV002084884 likely benign Aspartylglucosaminuria 2021-02-23 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.