Submissions for variant NM_015046.7(SETX):c.498+20G>A

gnomAD frequency: 0.02106  dbSNP: rs73659013

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000243442	SCV000312309	benign	not specified		criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001582868	SCV001473483	benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
GeneDx	RCV001582868	SCV001813214	likely benign	not provided	2018-08-14	criteria provided, single submitter	clinical testing
Invitae	RCV002058251	SCV002489484	benign	Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003233520	SCV003931585	benign	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	2023-02-08	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003233521	SCV003931586	benign	Amyotrophic lateral sclerosis type 4	2023-02-08	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000243442	SCV001807866	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000243442	SCV001920168	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000243442	SCV001930625	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000243442	SCV001974186	benign	not specified		no assertion criteria provided	clinical testing