Submissions for variant NM_014363.6(SACS):c.4188C>T (p.His1396=)

gnomAD frequency: 0.00688  dbSNP: rs61754477

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000324275	SCV000336092	benign	not specified	2015-10-13	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000265524	SCV000383354	likely benign	Charlevoix-Saguenay spastic ataxia	2016-06-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000461336	SCV000562831	benign	Spastic paraplegia	2024-02-01	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000324275	SCV001476817	benign	not specified	2019-11-20	criteria provided, single submitter	clinical testing
GeneDx	RCV000676366	SCV001947825	benign	not provided	2018-10-05	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000676366	SCV005219358	likely benign	not provided		criteria provided, single submitter	not provided
Mayo Clinic Laboratories, Mayo Clinic	RCV000676366	SCV000802142	benign	not provided	2017-06-13	no assertion criteria provided	clinical testing
Natera, Inc.	RCV000265524	SCV001453553	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+	RCV000324275	SCV001959808	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000324275	SCV001975746	benign	not specified		no assertion criteria provided	clinical testing