ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.3129A>G (p.Ser1043=) (rs148878361)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000228187 SCV000289956 benign Spastic paraplegia 2017-07-14 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000372721 SCV000338243 likely benign not specified 2016-01-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000334685 SCV000383364 uncertain significance Spastic ataxia Charlevoix-Saguenay type 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710205 SCV000614949 benign not provided 2017-09-29 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000334685 SCV000744369 likely benign Spastic ataxia Charlevoix-Saguenay type 2015-09-21 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000334685 SCV000733202 likely benign Spastic ataxia Charlevoix-Saguenay type 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.