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

gnomAD frequency: 0.36123  dbSNP: rs2737700

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000118235	SCV000312165	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000331174	SCV000383315	likely benign	Charlevoix-Saguenay spastic ataxia	2016-06-14	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000118235	SCV001475449	benign	not specified	2019-09-04	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001509974	SCV001716895	benign	Spastic paraplegia	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou 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
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001847723	SCV002105120	benign	Hereditary spastic paraplegia	2016-12-12	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000676355	SCV005219342	likely benign	not provided		criteria provided, single submitter	not provided
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
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000118235	SCV001956579	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000118235	SCV001973591	benign	not specified		no assertion criteria provided	clinical testing
Natera, Inc.	RCV000331174	SCV002086188	benign	Charlevoix-Saguenay spastic ataxia	2019-11-19	no assertion criteria provided	clinical testing