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 15 146 140 83 2 336

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 3 9 70 93 67 0 228
Spinocerebellar Ataxia, Dominant 0 0 54 39 1 0 94
not specified 0 0 20 14 20 0 54
Spinocerebellar ataxia 5 4 6 1 2 8 0 21
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: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Athena Diagnostics Inc 1 1 41 41 57 0 141
Invitae 0 0 0 60 40 0 100
Illumina Clinical Services Laboratory,Illumina 0 0 56 39 1 0 96
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 18 4 0 0 24
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 17 0 2 0 19
GeneDx 2 5 9 1 0 0 17
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
Institute of Human Genetics,Klinikum rechts der Isar 0 2 0 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
Mendelics 1 0 0 0 0 0 1
Mayo Clinic Genetic Testing 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
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 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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