Submissions for variant NM_015046.7(SETX):c.5825T>C (p.Ile1942Thr)

gnomAD frequency: 0.00001  dbSNP: rs773379832

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	RCV000995873	SCV001150257	pathogenic	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	2018-11-12	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001093196	SCV001250055	pathogenic	not provided	2019-03-01	criteria provided, single submitter	clinical testing
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University	RCV001095488	SCV001251082	likely benign	not specified	2020-03-31	criteria provided, single submitter	research
Laboratory for Molecular Genetic Diagnostic of Neurological Diseases, University of Belgrade, School of Medicine	RCV000995873	SCV001479302	likely pathogenic	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	2020-07-01	criteria provided, single submitter	clinical testing
MGZ Medical Genetics Center	RCV000995873	SCV002580688	likely pathogenic	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	2022-01-28	criteria provided, single submitter	clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	RCV000995873	SCV003919732	pathogenic	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	2023-04-27	criteria provided, single submitter	clinical testing
Solve-RD Consortium	RCV004768767	SCV005091385	likely pathogenic	Amyotrophic lateral sclerosis type 4	2022-06-01	no assertion criteria provided	provider interpretation	Variant confirmed as disease-causing by referring clinical team