Submissions for variant NM_014363.6(SACS):c.12304T>C (p.Leu4102=)

gnomAD frequency: 0.21736  dbSNP: rs2737699

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000118230	SCV000312146	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000325147	SCV000383295	likely benign	Charlevoix-Saguenay spastic ataxia	2016-06-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001517093	SCV001725507	benign	Spastic paraplegia	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000325147	SCV001750100	benign	Charlevoix-Saguenay spastic ataxia	2021-07-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000676348	SCV001949446	benign	not provided	2018-07-17	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001847718	SCV002104976	benign	Hereditary spastic paraplegia	2016-12-12	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000676348	SCV005219338	likely benign	not provided		criteria provided, single submitter	not provided
Genetic Services Laboratory, University of Chicago	RCV000118230	SCV000152589	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	RCV000676348	SCV000802122	benign	not provided	2016-02-19	no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000118230	SCV002034198	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000118230	SCV002037732	benign	not specified		no assertion criteria provided	clinical testing
Natera, Inc.	RCV000325147	SCV002086132	benign	Charlevoix-Saguenay spastic ataxia	2019-11-19	no assertion criteria provided	clinical testing