ClinVar Miner

Submissions for variant NM_000531.6(OTC):c.299-8del

dbSNP: rs764551624
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
Eurofins Ntd Llc (ga) RCV000178112 SCV000230113 benign not specified 2014-05-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001510338 SCV001717353 benign Ornithine carbamoyltransferase deficiency 2025-02-03 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001699143 SCV001925680 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000178112 SCV001971874 benign not specified 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.