ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.8344_8345delinsAT (p.Ala2782Ile)

dbSNP: rs386768924
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 RCV000518355 SCV000614986 benign not provided 2018-12-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005208606 SCV001001168 benign Spastic paraplegia 2024-12-16 criteria provided, single submitter clinical testing
GeneDx RCV000518355 SCV001947420 benign not provided 2020-08-27 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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.