Submissions for variant NM_015046.7(SETX):c.5535C>T (p.Arg1845=)

gnomAD frequency: 0.00002  dbSNP: rs200433173

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Athena Diagnostics	RCV000992945	SCV001145562	benign	not provided	2018-11-16	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000992945	SCV002546102	likely benign	not provided	2022-05-01	criteria provided, single submitter	clinical testing	SETX: BP4, BP7
Labcorp Genetics (formerly Invitae), Labcorp	RCV002549818	SCV003243965	benign	Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	2022-07-13	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003233900	SCV003931320	likely benign	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	2023-02-08	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003233901	SCV003931321	likely benign	Amyotrophic lateral sclerosis type 4	2023-02-08	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004536023	SCV004725276	likely benign	SETX-related disorder	2023-07-07	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).