ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.489G>A (p.Leu163=) (rs147601535)

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
PreventionGenetics,PreventionGenetics RCV000251696 SCV000301571 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000357381 SCV000429362 uncertain significance Primary hyperoxaluria 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000974765 SCV001122623 likely benign not provided 2019-02-06 criteria provided, single submitter clinical testing
Clinical Biochemistry Laboratory,Health Services Laboratory RCV000186244 SCV000239568 uncertain significance Primary hyperoxaluria, type I 2014-11-27 no assertion criteria provided research

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.