ClinVar Miner

Submissions for variant NM_004733.4(SLC33A1):c.1482+7A>G

gnomAD frequency: 0.00458  dbSNP: rs149522913
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 RCV001080494 SCV000562560 benign Spastic paraplegia 2024-01-18 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000713339 SCV000843936 benign not provided 2018-04-02 criteria provided, single submitter clinical testing
GeneDx RCV000713339 SCV001827013 likely benign not provided 2018-10-02 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848838 SCV002105209 likely benign Hereditary spastic paraplegia 2019-05-01 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.