ClinVar Miner

Variants in gene SPTBN2

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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
12 21 202 145 97 2 403

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 4 9 108 102 66 0 269
Autosomal dominant cerebellar ataxia 0 0 49 29 1 0 79
not specified 0 2 18 13 39 0 70
Spinocerebellar ataxia type 5 5 9 22 6 17 0 56
Spinocerebellar ataxia, autosomal recessive 14 3 2 13 4 5 0 27
Autosomal recessive cerebellar ataxia 0 0 4 1 0 0 5
Spinocerebellar ataxia type 5; Spinocerebellar ataxia, autosomal recessive 14 0 0 2 0 0 2 4
Inborn genetic diseases 1 0 2 0 0 0 3
Cerebellar ataxia 0 1 0 0 0 0 1
Intellectual disability 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Athena Diagnostics Inc 1 1 71 43 74 0 190
Invitae 1 0 7 65 40 0 113
Illumina Clinical Services Laboratory,Illumina 0 0 63 36 12 0 101
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 23 8 0 0 33
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 17 0 2 0 19
GeneDx 2 5 9 1 0 0 17
Baylor Genetics 1 3 5 0 0 0 9
Genetic Services Laboratory, University of Chicago 0 3 4 2 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
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 3 0 1 0 4
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 3 0 3
Ambry Genetics 1 0 2 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 0 3 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 2 1 0 3
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 2 1 0 3
Institute of Human Genetics, Klinikum rechts der Isar 0 2 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 1 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
Consultorio y Laboratorio de Neurogenética,Hospital JM Ramos Mejia 0 0 2 0 0 0 2
Clinical Genetics laboratory, University of Goettingen 0 0 1 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 1 0 0 0 0 1
Mendelics 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 0 1
Developmental Genetics Unit,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

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