Submissions for variant NM_014363.6(SACS):c.6195T>C (p.Ile2065=)

gnomAD frequency: 0.21785  dbSNP: rs4143768

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000118232	SCV000312158	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000381598	SCV000383342	likely benign	Charlevoix-Saguenay spastic ataxia	2016-06-14	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000676364	SCV001145339	benign	not provided	2019-05-21	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001517096	SCV001725510	benign	Spastic paraplegia	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000381598	SCV001750106	benign	Charlevoix-Saguenay spastic ataxia	2021-07-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000676364	SCV001949441	benign	not provided	2018-07-17	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001847720	SCV002105067	benign	Hereditary spastic paraplegia	2016-12-12	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000676364	SCV005219353	likely benign	not provided		criteria provided, single submitter	not provided
Genetic Services Laboratory, University of Chicago	RCV000118232	SCV000152591	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	RCV000676364	SCV000802140	benign	not provided	2016-02-19	no assertion criteria provided	clinical testing
Natera, Inc.	RCV000381598	SCV001463603	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+	RCV000118232	SCV001955947	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000118232	SCV001974322	benign	not specified		no assertion criteria provided	clinical testing