ClinVar Miner

Variants in gene SPTAN1

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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 total
14 13 318 507 180 856

Condition and significance breakdown #

Total conditions: 15
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not specified 0 0 26 267 91 359
Early infantile epileptic encephalopathy 1 2 125 143 76 347
not provided 5 5 103 134 64 307
Seizures 1 0 15 48 20 84
Early Infantile Epileptic Encephalopathy, Autosomal Dominant 0 0 44 36 2 82
Early infantile epileptic encephalopathy 5 5 4 31 2 1 43
Rolandic epilepsy 7 0 0 0 0 7
Inborn genetic diseases 0 0 3 0 0 3
Abnormality of brain morphology 0 1 0 0 0 1
Epilepsy, focal, with speech disorder and with or without mental retardation 0 0 1 0 0 1
Epileptic encephalopathy 1 0 0 0 0 1
Focal epilepsy 0 1 0 0 0 1
Generalized tonic-clonic seizures 0 0 1 0 0 1
Peripheral neuropathy 0 0 1 0 0 1
Variant of unknown significance 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
GeneDx 5 4 52 269 130 460
Invitae 1 2 125 229 82 439
Ambry Genetics 1 0 18 48 20 87
Illumina Clinical Services Laboratory,Illumina 0 0 44 36 2 82
Genetic Services Laboratory, University of Chicago 2 1 31 23 18 75
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 37 13 4 55
Athena Diagnostics Inc 1 0 7 10 15 33
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 24 4 0 29
PreventionGenetics,PreventionGenetics 0 0 0 0 10 10
Bioinformatics Core,Luxembourg Center for Systems Biomedicine 7 0 0 0 0 7
Fulgent Genetics,Fulgent Genetics 0 0 5 1 0 6
OMIM 4 0 1 0 0 5
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 2 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 0 0 3
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 2 0 0 2
Institute of Human Genetics,University of Goettingen 0 2 0 0 0 2
Mendelics 0 0 1 0 1 2
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 0 2 0 0 2
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 2 0 0 2
Neurogenetics Laboratory - MEYER,AOU Meyer 1 1 0 0 0 2
Claritas Genomics 0 0 1 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Dobyns Lab,Seattle Children's Research Institute 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 1
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 0 1 0 0 1
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 1 0 1
Genetics Laboratory - UDIAT Centre Diagnòstic, Hospital Universitari Parc Tauli 0 1 0 0 0 1

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