ClinVar Miner

Variants studied for spinocerebellar ataxia, autosomal recessive, with axonal neuropathy

Included ClinVar conditions (5):
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
60 34 638 532 425 5 1523

Gene and significance breakdown #

Total genes and gene combinations: 9
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SETX 53 32 549 516 381 4 1368
TDP1 1 1 51 5 21 0 79
PIK3R5 1 0 9 0 11 1 21
APTX 0 0 10 2 3 0 15
LOC126860782, SETX 0 0 4 8 5 0 15
LOC126862019, TDP1 0 0 11 1 3 0 14
COA7 2 1 1 0 0 0 4
LOC126860783, SETX 0 0 3 0 1 0 4
COA7, LOC129388524 3 0 0 0 0 0 3

Submitter and significance breakdown #

Total submitters: 43
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 29 5 332 485 359 0 1210
Illumina Laboratory Services, Illumina 1 0 206 26 66 0 299
Genome-Nilou Lab 4 10 103 64 49 0 230
OMIM 18 0 0 0 0 0 18
Fulgent Genetics, Fulgent Genetics 0 0 15 3 0 0 18
Baylor Genetics 3 2 10 0 0 0 15
Neuberg Centre For Genomic Medicine, NCGM 0 7 2 0 0 0 9
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 6 0 1 0 7
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 3 1 0 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 0 0 2 1 1 0 4
Revvity Omics, Revvity 0 0 3 0 0 0 3
MGZ Medical Genetics Center 0 3 0 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
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town 1 0 2 0 0 0 3
Genetic Services Laboratory, University of Chicago 1 1 0 0 0 0 2
Mendelics 0 1 1 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, Medical Genetics 1 1 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 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
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
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
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 0 1 0 0 0 1
New York Genome Center 0 0 1 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
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 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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