ClinVar Miner

Submissions for variant NM_000274.4(OAT):c.875A>G (p.Lys292Arg)

dbSNP: rs1057518927
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000415047 SCV000492945 likely pathogenic Optic atrophy; Abnormal choroid morphology; Visual field defect; Pain 2015-01-14 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001198514 SCV001369477 likely pathogenic Ornithine aminotransferase deficiency 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. This variant was detected in homozygous state.

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.