Submissions for variant NM_015046.7(SETX):c.717A>G (p.Leu239=)

gnomAD frequency: 0.00076  dbSNP: rs147125311

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001079845	SCV000645284	likely benign	Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	2023-10-29	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000542634	SCV001145575	benign	not provided	2018-09-18	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003233731	SCV003931572	likely benign	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	2023-02-08	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003233732	SCV003931573	likely benign	Amyotrophic lateral sclerosis type 4	2023-02-08	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003925661	SCV004740350	likely benign	SETX-related condition	2019-02-19	criteria provided, single submitter	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).
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000542634	SCV001799979	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000542634	SCV001807648	likely benign	not provided		no assertion criteria provided	clinical testing