ClinVar Miner

Variants in gene SPTBN2

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Gene type:
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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
25 33 580 477 159 2 1068

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 16 14 391 445 131 0 896
Inborn genetic diseases 2 0 129 10 0 0 141
not specified 0 2 30 23 50 0 103
Spinocerebellar ataxia type 5 6 12 39 7 21 0 80
Autosomal dominant cerebellar ataxia 0 0 49 29 1 0 79
Autosomal recessive spinocerebellar ataxia 14 5 5 22 4 9 0 45
SPTBN2-related condition 0 0 4 24 5 0 33
Spinocerebellar ataxia type 5; Autosomal recessive spinocerebellar ataxia 14 0 1 10 1 0 2 14
Autosomal recessive cerebellar ataxia 0 0 4 1 0 0 5
See cases 0 0 4 0 0 0 4
Cerebellar ataxia 0 1 0 0 0 0 1
Intellectual disability 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 52
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 7 1 178 370 95 0 651
Athena Diagnostics Inc 1 2 132 47 84 0 266
Ambry Genetics 2 0 129 10 0 0 141
GeneDx 5 8 68 35 21 0 137
Illumina Laboratory Services, Illumina 0 0 64 36 12 0 102
CeGaT Center for Human Genetics Tuebingen 3 2 40 41 0 0 86
PreventionGenetics, part of Exact Sciences 0 0 4 24 5 0 33
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 11 6 0 0 19
Eurofins Ntd Llc (ga) 0 0 17 0 2 0 19
Revvity Omics, Revvity 1 0 17 0 0 0 18
Genetic Services Laboratory, University of Chicago 1 4 5 2 0 0 12
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 5 3 2 0 10
Baylor Genetics 0 3 6 0 0 0 9
OMIM 7 0 0 0 0 0 7
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 7 0 0 0 7
Fulgent Genetics, Fulgent Genetics 0 0 5 1 0 0 6
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 2 2 2 0 6
Neuberg Centre For Genomic Medicine, NCGM 0 1 5 0 0 0 6
MGZ Medical Genetics Center 0 0 5 0 0 0 5
3billion 1 1 3 0 0 0 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 5 0 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 0 0 4 0 0 0 4
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 3 0 1 0 4
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 2 2 0 0 0 0 4
Genome-Nilou Lab 0 0 0 0 4 0 4
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 2 0 0 0 0 3
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 3 0 0 0 3
O&I group, Department of Genetics, University Medical Center of Groningen 0 0 3 0 0 0 3
Centogene AG - the Rare Disease Company 0 0 1 1 0 0 2
Mendelics 1 0 1 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 1 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 2 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 0 2
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 0 0 2 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 1 0 0 0 2
New York Genome Center 0 0 2 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 1 1 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 1 0 1
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 1 0 0 0 0 1
Undiagnosed Diseases Network, NIH 0 1 0 0 0 0 1
Center for Precision Medicine, Vanderbilt University Medical Center 0 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 0 0 1
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 1 0 0 0 0 0 1
Medizinische Genetik Mainz, Limbach Genetics GmbH 0 0 1 0 0 0 1
DECIPHERD-UDD, Universidad del Desarrollo 0 0 1 0 0 0 1

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