ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.680+17C>T

gnomAD frequency: 0.14843  dbSNP: rs11693280
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000248666 SCV000301573 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001515648 SCV001723770 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000186248 SCV001761742 benign Primary hyperoxaluria, type I 2021-07-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001515648 SCV005242884 benign not provided criteria provided, single submitter not provided
Clinical Biochemistry Laboratory, Health Services Laboratory RCV000186248 SCV000239572 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.