Submissions for variant NM_014363.6(SACS):c.10106T>C (p.Val3369Ala)

gnomAD frequency: 0.21747  dbSNP: rs17078605

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000118228	SCV000312142	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000366246	SCV000383313	likely benign	Charlevoix-Saguenay spastic ataxia	2016-06-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001517094	SCV001725508	benign	Spastic paraplegia	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000366246	SCV001750103	benign	Charlevoix-Saguenay spastic ataxia	2021-07-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000676354	SCV001858750	benign	not provided	2018-07-17	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001847716	SCV002104952	benign	Hereditary spastic paraplegia	2016-12-12	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000676354	SCV005219340	likely benign	not provided		criteria provided, single submitter	not provided
Genetic Services Laboratory, University of Chicago	RCV000118228	SCV000152587	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	RCV000676354	SCV000802128	benign	not provided	2016-02-19	no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000118228	SCV001959688	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000118228	SCV001970309	benign	not specified		no assertion criteria provided	clinical testing
Natera, Inc.	RCV000366246	SCV002086186	benign	Charlevoix-Saguenay spastic ataxia	2019-11-19	no assertion criteria provided	clinical testing