ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.9680A>C (p.Lys3227Thr)

gnomAD frequency: 0.00001  dbSNP: rs765635417
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
Athena Diagnostics RCV000712995 SCV000843556 uncertain significance not provided 2017-12-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002532946 SCV003279304 likely benign Spastic paraplegia 2023-12-30 criteria provided, single submitter clinical testing
Natera, Inc. RCV001825427 SCV002086191 uncertain significance Charlevoix-Saguenay spastic ataxia 2019-11-11 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.