ClinVar Miner

Submissions for variant NM_138413.4(HOGA1):c.745C>G (p.Gln249Glu)

gnomAD frequency: 0.00004  dbSNP: rs368276974
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
Counsyl RCV000186468 SCV000788900 uncertain significance Primary hyperoxaluria type 3 2016-12-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000186468 SCV002801519 uncertain significance Primary hyperoxaluria type 3 2022-04-05 criteria provided, single submitter clinical testing
Clinical Biochemistry Laboratory, Health Services Laboratory RCV000186468 SCV000239826 uncertain significance Primary hyperoxaluria type 3 2014-11-27 no assertion criteria provided in vitro Predicted tolerated (Sift/polyphen)

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.