Submissions for variant NM_014363.6(SACS):c.909A>G (p.Ala303=)

gnomAD frequency: 0.03313  dbSNP: rs41315020

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000249605	SCV000312164	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000344542	SCV000383387	likely benign	Charlevoix-Saguenay spastic ataxia	2016-06-14	criteria provided, single submitter	clinical testing
Invitae	RCV000465285	SCV000562832	benign	Spastic paraplegia	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000676375	SCV001897054	benign	not provided	2018-10-09	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000676375	SCV000802151	benign	not provided	2016-02-22	no assertion criteria provided	clinical testing
Natera, Inc.	RCV000344542	SCV001453567	benign	Charlevoix-Saguenay spastic ataxia	2020-09-16	no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000249605	SCV001953828	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000249605	SCV001973834	benign	not specified		no assertion criteria provided	clinical testing