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 9 266 358 102 617

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 0 1 86 74 46 207
not provided 5 4 87 10 10 115
Seizures 1 0 16 48 19 84
Early Infantile Epileptic Encephalopathy, Autosomal Dominant 0 0 44 36 2 82
Early infantile epileptic encephalopathy 5 5 2 29 2 0 38
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: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
GeneDx 5 4 52 234 86 381
Invitae 0 1 86 74 46 207
Ambry Genetics 1 0 19 48 19 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 6 9 11 27
PreventionGenetics 0 0 0 0 10 10
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 7 1 0 8
Bioinformatics Core,Luxembourg Center for Systems Biomedicine 7 0 0 0 0 7
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
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
Institute of Human Genetics,University of Goettingen 0 1 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 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

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