ClinVar Miner

Submissions for variant NM_001199107.2(TBC1D24):c.48C>T (p.Asp16=)

gnomAD frequency: 0.00004  dbSNP: rs555276293
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
GeneDx RCV001697866 SCV000721296 likely benign not provided 2020-12-04 criteria provided, single submitter clinical testing
Invitae RCV001430851 SCV001633596 likely benign Developmental and epileptic encephalopathy, 1; Autosomal dominant nonsyndromic hearing loss 65; Caused by mutation in the TBC1 domain family, member 24 2023-12-11 criteria provided, single submitter 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.