ClinVar Miner

Variants in gene SCN8A

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Minimum submission review status: Collection method:
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Gene type:
ClinVar version:

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
64 73 259 275 70 2 650

Condition and significance breakdown #

Total conditions: 29
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 18 37 96 129 48 1 309
not specified 0 0 13 101 34 0 135
Early infantile epileptic encephalopathy 4 4 96 21 3 0 128
Early Infantile Epileptic Encephalopathy, Autosomal Dominant 0 0 55 46 8 0 109
Early infantile epileptic encephalopathy 13 41 19 6 1 0 0 63
History of neurodevelopmental disorder 3 1 6 35 9 0 54
Inborn genetic diseases 4 1 4 0 0 0 9
Cognitive impairment with or without cerebellar ataxia; Early infantile epileptic encephalopathy 13; Seizures, benign familial infantile, 5 0 4 3 0 0 0 7
Epileptic encephalopathy 2 2 1 0 0 0 5
Cognitive impairment with or without cerebellar ataxia 1 2 0 0 0 0 3
COGNITIVE IMPAIRMENT WITHOUT CEREBELLAR ATAXIA 2 0 0 0 0 0 2
Early infantile epileptic encephalopathy 13; Seizures, benign familial infantile, 5 0 1 1 0 0 0 2
SCN8A-related disorder 0 1 0 0 0 1 2
Seizures, benign familial infantile, 5 2 0 0 0 0 0 2
Seizures; Intellectual disability 0 2 0 0 0 0 2
Autistic disorder of childhood onset; Seizures; Intellectual disability 0 1 0 0 0 0 1
Cerebellar ataxia; Intellectual disability 0 1 0 0 0 0 1
Epilepsy 0 1 0 0 0 0 1
Fetal akinesia sequence; Arthrogryposis multiplex congenita 0 1 0 0 0 0 1
Focal epilepsy 0 1 0 0 0 0 1
Generalized tonic-clonic seizures 0 0 1 0 0 0 1
Global developmental delay; Choreoathetosis; Leukoencephalopathy; Febrile seizures 0 1 0 0 0 0 1
Global developmental delay; Developmental regression; Developmental stagnation at onset of seizures; Generalized tonic seizures; Intellectual disability, severe; Epileptic encephalopathy 1 0 0 0 0 0 1
Global developmental delay; Seizures 1 0 0 0 0 0 1
Intellectual disability, moderate 0 0 1 0 0 0 1
MYOCLONUS, FAMILIAL, 2 1 0 0 0 0 0 1
SCN8A-related epileptic disorder 0 1 0 0 0 0 1
Seizures; Epileptic encephalopathy; Infantile spasms 0 1 0 0 0 0 1
developmental delay with seizures 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 4 4 96 134 31 0 269
GeneDx 17 31 49 101 45 0 243
Illumina Clinical Services Laboratory,Illumina 0 0 55 46 8 0 109
Ambry Genetics 7 1 10 35 9 0 62
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 2 28 4 7 0 42
GeneReviews 35 0 1 0 0 0 36
CeGaT Praxis fuer Humangenetik Tuebingen 0 3 27 3 0 0 33
Genetic Services Laboratory, University of Chicago 1 3 6 13 1 0 24
Athena Diagnostics Inc 0 0 5 0 11 0 16
OMIM 14 0 0 0 0 0 14
Mendelics 3 9 0 1 0 0 13
PreventionGenetics,PreventionGenetics 0 0 0 1 7 0 8
Baylor Genetics 0 5 1 0 0 0 6
Neurogenetics Laboratory - MEYER,AOU Meyer 2 3 1 0 0 0 6
Génétique des Maladies du Développement, Hospices Civils de Lyon 2 2 1 0 0 0 5
Fulgent Genetics,Fulgent Genetics 0 1 3 0 0 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 1 2 0 0 0 4
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 2 0 1 0 4
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 4 0 0 0 0 4
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 3 0 0 0 3
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 0 2 0 0 0 0 2
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 2 0 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 1 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 1 1 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Lyon Laboratory, Cold Spring Harbor Laboratory 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 1 0 0 0 0 1
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 1 0 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 0 0 0 0 0 1
Undiagnosed Diseases Network,NIH 0 1 0 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 0 1
Cirak Lab,University Hospital Cologne 0 1 0 0 0 0 1
National Institute for Data Science in Health and Medicine, School of Medicine,Xiamen University 1 0 0 0 0 0 1

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