ClinVar Miner

Submissions for variant NM_001024845.3(SLC6A9):c.1146G>A (p.Pro382=)

gnomAD frequency: 0.00909  dbSNP: rs76354303
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
Invitae RCV000954065 SCV001100672 benign Atypical glycine encephalopathy 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003311924 SCV004009839 benign not provided 2023-04-01 criteria provided, single submitter clinical testing SLC6A9: BP4, BP7, BS1, BS2

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.