ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.9981T>C (p.Ala3327=) (rs2737700)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 9
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000118235 SCV000312165 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000331174 SCV000383315 likely benign Charlevoix-Saguenay spastic ataxia 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000118235 SCV001475449 benign not specified 2019-09-04 criteria provided, single submitter clinical testing
Invitae RCV001509974 SCV001716895 benign Spastic paraplegia 2020-11-25 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV000331174 SCV001750104 benign Charlevoix-Saguenay spastic ataxia 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV000676355 SCV001828925 benign not provided 2018-07-05 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000118235 SCV000152594 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Mayo Clinic Laboratories, Mayo Clinic RCV000676355 SCV000802129 benign not provided 2016-02-19 no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000118235 SCV001956579 benign not specified 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.