Submissions for variant NM_014363.6(SACS):c.6267G>A (p.Ser2089=)

gnomAD frequency: 0.00688  dbSNP: rs9550956

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000321971	SCV000336095	benign	not specified	2015-10-13	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000343325	SCV000383341	likely benign	Charlevoix-Saguenay spastic ataxia	2016-06-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000474698	SCV000562830	benign	Spastic paraplegia	2024-02-01	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000321971	SCV001474670	benign	not specified	2019-11-20	criteria provided, single submitter	clinical testing
GeneDx	RCV000676362	SCV001857213	benign	not provided	2018-10-05	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000676362	SCV005219352	likely benign	not provided		criteria provided, single submitter	not provided
Mayo Clinic Laboratories, Mayo Clinic	RCV000676362	SCV000802138	benign	not provided	2017-06-13	no assertion criteria provided	clinical testing
Natera, Inc.	RCV000343325	SCV001463601	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+	RCV000321971	SCV001958021	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000321971	SCV001972546	benign	not specified		no assertion criteria provided	clinical testing