ClinVar Miner

Variants studied for Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
28 27 262 80 61 2 442

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SETX 28 27 248 77 56 2 420
APTX 0 0 10 2 3 0 15
LOC126860783, SETX 0 0 3 0 1 0 4
LOC126860782, SETX 0 0 1 1 1 0 3

Submitter and significance breakdown #

Total submitters: 34
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Genome-Nilou Lab 4 10 103 64 38 0 219
Illumina Laboratory Services, Illumina 1 0 150 20 43 0 214
OMIM 11 0 0 0 0 0 11
Neuberg Centre For Genomic Medicine, NCGM 0 6 2 0 0 0 8
Baylor Genetics 2 1 3 0 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 0 0 2 1 1 0 4
MGZ Medical Genetics Center 0 3 0 0 0 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 2 1 0 0 0 3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 3 0 0 0 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 3 0 0 0 3
Genetic Services Laboratory, University of Chicago 1 1 0 0 0 0 2
GeneReviews 0 0 0 0 0 2 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 1 0 1 0 0 0 2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 2 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 1 0 0 0 0 2
3billion 1 1 0 0 0 0 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 0 2
Pangenia Genomics, Pangenia Inc. 0 1 1 0 0 0 2
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town 0 0 2 0 0 0 2
Institute of Human Genetics, Cologne University 1 0 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 1
Mendelics 0 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 1 0 0 0 0 0 1
Laboratory for Molecular Genetic Diagnostic of Neurological Diseases, University of Belgrade, School of Medicine 0 1 0 0 0 0 1
Department of Medical Laboratory, Affiliated Hospital of Southwest Medical University 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1
Clinical Genetics, Synlab MVZ Humangenetik Freiburg 0 1 0 0 0 0 1

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