ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.10047A>G (p.Ser3349=)

gnomAD frequency: 0.00006  dbSNP: rs138909482
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000876569 SCV001019160 likely benign Spastic paraplegia 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV001805926 SCV002050539 likely benign not provided 2021-02-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV001273196 SCV001455917 uncertain significance Charlevoix-Saguenay spastic ataxia 2020-01-17 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.