Submissions for variant NM_015046.7(SETX):c.7114G>A (p.Asp2372Asn)

gnomAD frequency: 0.00178  dbSNP: rs150673589

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000242830	SCV000312323	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000274061	SCV000477796	benign	Amyotrophic lateral sclerosis type 4	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina	RCV000333920	SCV000477797	benign	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae	RCV000553059	SCV000645282	benign	Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	2024-01-29	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000242830	SCV001476070	benign	not specified	2020-04-21	criteria provided, single submitter	clinical testing
GeneDx	RCV001529366	SCV001861739	benign	not provided	2021-05-21	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 30076350, 25382069, 25174650)
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001529366	SCV002049780	benign	not provided	2021-09-08	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001848036	SCV002105187	likely benign	Hereditary spastic paraplegia	2018-07-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000333920	SCV003931899	likely benign	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	2023-02-08	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000274061	SCV003931910	likely benign	Amyotrophic lateral sclerosis type 4	2023-02-08	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001529366	SCV004156595	benign	not provided	2023-07-01	criteria provided, single submitter	clinical testing	SETX: BS1, BS2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001529366	SCV001742687	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001529366	SCV001809033	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001529366	SCV001924831	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001529366	SCV001975661	likely benign	not provided		no assertion criteria provided	clinical testing