ClinVar Miner

Submissions for variant NM_001199107.2(TBC1D24):c.1142+14G>A

gnomAD frequency: 0.00004  dbSNP: rs745904419
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000214163 SCV000270881 likely benign not specified 2016-02-28 criteria provided, single submitter clinical testing c.1142+14G>A in intron 4 of TBC1D24: This variant is not expected to have clinic al significance because it is not located within the splice consensus sequence a nd computational tools do not suggest an impact to splicing. It has been identi fied in 0.22% (10/4582) of Latino chromosomes by the Exome Aggregation Consortiu m (ExAC, http://exac.broadinstitute.org; dbSNP rs745904419).
GeneDx RCV000214163 SCV000514854 likely benign not specified 2016-12-09 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV002057148 SCV002381997 likely benign Developmental and epileptic encephalopathy, 1; Autosomal dominant nonsyndromic hearing loss 65; Caused by mutation in the TBC1 domain family, member 24 2024-01-11 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.