ClinVar Miner

Submissions for variant NM_003705.5(SLC25A12):c.99T>C (p.Tyr33=)

gnomAD frequency: 0.81051  dbSNP: rs1878583
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000676750 SCV001720625 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807240 SCV002055890 benign Developmental and epileptic encephalopathy, 39 2021-07-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000676750 SCV005238365 benign not provided criteria provided, single submitter not provided
Mayo Clinic Laboratories, Mayo Clinic RCV000676750 SCV000802551 benign not provided 2016-02-19 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.