Submissions for variant NM_014363.6(SACS):c.5732C>T (p.Thr1911Met)

gnomAD frequency: 0.00001  dbSNP: rs368494148

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
CeGaT Center for Human Genetics Tuebingen	RCV000513129	SCV000608673	uncertain significance	not provided	2017-05-01	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000513129	SCV000614963	uncertain significance	not provided	2021-08-09	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001275193	SCV002026522	uncertain significance	Charlevoix-Saguenay spastic ataxia	2021-09-05	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002527402	SCV003466272	likely benign	Spastic paraplegia	2024-10-22	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV001275193	SCV003820634	uncertain significance	Charlevoix-Saguenay spastic ataxia	2021-02-09	criteria provided, single submitter	clinical testing
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	RCV001275193	SCV004809632	uncertain significance	Charlevoix-Saguenay spastic ataxia	2024-04-04	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001275193	SCV001460057	uncertain significance	Charlevoix-Saguenay spastic ataxia	2020-01-12	no assertion criteria provided	clinical testing