ClinVar Miner

Submissions for variant NM_014251.3(SLC25A13):c.468+1G>C

gnomAD frequency: 0.00001  dbSNP: rs1060499612
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
Baylor Genetics RCV004568140 SCV005056788 likely pathogenic Citrullinemia, type II, adult-onset 2023-12-14 criteria provided, single submitter clinical testing
Division of Human Genetics, Children's Hospital of Philadelphia RCV000477873 SCV000536904 likely pathogenic Citrullinemia type II; Neonatal intrahepatic cholestasis due to citrin deficiency 2016-06-30 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.