Submissions for variant NM_014363.6(SACS):c.8315G>C (p.Gly2772Ala)

gnomAD frequency: 0.00004  dbSNP: rs763504656

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Athena Diagnostics	RCV000516833	SCV000614984	uncertain significance	not specified	2016-10-24	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000765120	SCV000896342	uncertain significance	Charlevoix-Saguenay spastic ataxia	2018-10-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000765120	SCV002026503	uncertain significance	Charlevoix-Saguenay spastic ataxia	2021-09-05	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002525074	SCV003448782	likely benign	Spastic paraplegia	2024-01-03	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000765120	SCV003820616	uncertain significance	Charlevoix-Saguenay spastic ataxia	2021-11-12	criteria provided, single submitter	clinical testing
PROSPAX: an integrated multimodal progression chart in spastic ataxias, Center for Neurology; Hertie-Institute for Clinical Brain Research	RCV000765120	SCV005061956	likely pathogenic	Charlevoix-Saguenay spastic ataxia	2022-01-01	criteria provided, single submitter	research
Breakthrough Genomics, Breakthrough Genomics	RCV004691826	SCV005192092	uncertain significance	not provided		criteria provided, single submitter	not provided