ClinVar Miner

Variants studied for Spinocerebellar ataxia type 5

Coded as:
Minimum submission review status: Collection method:
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Gene type:

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 total
7 17 51 7 21 97

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SPTBN2 7 17 51 7 21 97

Submitter and significance breakdown #

Total submitters: 40
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 6 4 11 21
Baylor Genetics 0 2 5 0 0 7
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 7 0 0 7
3billion 2 1 2 0 0 5
Athena Diagnostics 0 0 0 0 5 5
Neuberg Centre For Genomic Medicine, NCGM 0 0 5 0 0 5
Genome-Nilou Lab 0 0 0 0 4 4
MGZ Medical Genetics Center 0 0 4 0 0 4
OMIM 4 0 0 0 0 4
Variantyx, Inc. 2 2 0 0 0 4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 2 1 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 2 1 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 3 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 0 3 0 0 3
O&I group, Department of Genetics, University Medical Center of Groningen 0 0 3 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 1 0 0 3
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 0 1 1 0 2
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 0 0 2 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 1 0 2
Institute of Human Genetics Munich, TUM University Hospital 0 2 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 1 1 0 0 2
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 1 1 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 0 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 1 0 0 0 1
Center of Human Genetics, Hôpital Erasme 1 0 0 0 0 1
Clinical Omics and Informatics (COIN) Unit, Neuroscience Institute, University Of Cape Town 0 0 1 0 0 1
DECIPHERD-UDD, Universidad del Desarrollo 0 0 1 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 1
Department of Paediatrics at Addenbrookes, Cambridge University Hospitals NHS Foundation Trust (UK) 0 0 1 0 0 1
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 0 1 0 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 0 1 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 1
Mendelics 1 0 0 0 0 1
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 1 0 0 0 0 1
Undiagnosed Diseases Network, NIH 0 1 0 0 0 1

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