ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.846+52G>A

gnomAD frequency: 0.43208  dbSNP: rs12695032
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
Genome-Nilou Lab RCV000186260 SCV001761744 benign Primary hyperoxaluria, type I 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV001610501 SCV001838992 benign not provided 2018-08-07 criteria provided, single submitter clinical testing
Clinical Biochemistry Laboratory, Health Services Laboratory RCV000186260 SCV000239584 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.