ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.9299C>A (p.Ser3100Tyr)

gnomAD frequency: 0.00014  dbSNP: rs150615169
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
Invitae RCV000863931 SCV001004663 benign Spastic paraplegia 2024-01-31 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847046 SCV002105113 likely benign Hereditary spastic paraplegia 2017-08-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV001830871 SCV002086196 likely benign Charlevoix-Saguenay spastic ataxia 2020-12-14 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.