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
9 11 121 68 51 2 240

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Spinocerebellar Ataxia, Dominant 0 0 54 39 1 0 94
not provided 3 7 46 14 26 0 93
not specified 0 0 20 17 20 0 57
Spinocerebellar ataxia 5 4 3 0 2 8 0 17
Autosomal recessive cerebellar ataxia 0 0 5 1 0 0 6
Spinocerebellar ataxia 5; Spinocerebellar ataxia, autosomal recessive 14 0 0 2 0 0 2 4
Inborn genetic diseases 0 1 2 0 0 0 3
Spinocerebellar ataxia, autosomal recessive 14 2 1 0 0 0 0 3
Cerebellar ataxia 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Athena Diagnostics Inc 1 0 26 25 46 0 98
Illumina Clinical Services Laboratory,Illumina 0 0 56 39 1 0 96
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 17 0 2 0 19
GeneDx 2 5 9 1 0 0 17
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 9 3 0 0 13
Genetic Services Laboratory, University of Chicago 0 1 6 2 0 0 9
OMIM 6 0 0 0 0 0 6
Ambry Genetics 0 1 2 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
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 3 0 3
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 0 1
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
Institute of Human Genetics,Klinikum rechts der Isar 0 1 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 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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