ClinVar Miner

Submissions for variant NM_138773.4(SLC25A46):c.1012T>C (p.Leu338=)

gnomAD frequency: 0.00001  dbSNP: rs1427862087
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
CeGaT Center for Human Genetics Tuebingen RCV001727328 SCV001961892 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing SLC25A46: BP4, BP7
Labcorp Genetics (formerly Invitae), Labcorp RCV003754912 SCV004399758 likely benign Neuropathy, hereditary motor and sensory, type 6B 2023-08-17 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.