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
69 108 401 321 75 3 862

Condition and significance breakdown #

Total conditions: 35
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Early infantile epileptic encephalopathy with suppression bursts 11 16 252 186 35 0 500
not provided 23 40 106 76 29 2 267
not specified 0 0 15 101 34 0 137
Early infantile epileptic encephalopathy 13 42 33 18 1 1 0 90
History of neurodevelopmental disorder 3 1 6 35 9 0 54
Inborn genetic diseases 5 2 10 0 0 0 17
Cognitive impairment with or without cerebellar ataxia 1 6 8 0 0 0 15
Early Infantile Epileptic Encephalopathy, Autosomal Dominant 0 0 5 4 0 0 9
Cognitive impairment with or without cerebellar ataxia; Early infantile epileptic encephalopathy 13; Seizures, benign familial infantile, 5 1 4 3 0 0 0 8
Epileptic encephalopathy 2 2 1 0 0 0 5
Seizures, benign familial infantile, 5 2 0 1 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
Epilepsy 1 1 0 0 0 0 2
Intellectual disability 0 0 2 0 0 0 2
Neurodevelopmental disorder 0 1 1 0 0 0 2
SCN8A-related disorder 0 1 0 0 0 1 2
See cases 0 2 0 0 0 0 2
Seizures 0 1 1 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
Fetal akinesia sequence; Arthrogryposis multiplex congenita 0 1 0 0 0 0 1
Focal clonic seizures 0 0 1 0 0 0 1
Focal epilepsy 0 1 0 0 0 0 1
Focal seizures with impairment of consciousness or awareness 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: 51
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 11 16 252 223 39 0 541
GeneDx 17 31 49 101 45 0 243
Ambry Genetics 8 2 16 35 9 0 70
CeGaT Praxis fuer Humangenetik Tuebingen 5 4 36 5 0 0 50
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 1 2 28 4 7 0 42
GeneReviews 35 0 1 0 0 0 36
Genetic Services Laboratory, University of Chicago 1 3 6 13 1 0 24
Baylor Genetics 1 9 9 0 0 0 19
Athena Diagnostics Inc 0 0 7 0 11 0 18
Institute of Human Genetics, University of Leipzig Medical Center 4 5 8 0 0 0 17
OMIM 14 0 0 0 0 0 14
Mendelics 3 9 0 1 0 0 13
Illumina Clinical Services Laboratory,Illumina 0 2 5 4 0 0 11
PreventionGenetics, PreventionGenetics 0 0 0 1 7 0 8
Neurogenetics Laboratory - MEYER,AOU Meyer 2 3 1 0 0 0 6
Génétique des Maladies du Développement, Hospices Civils de Lyon 3 2 1 0 0 0 6
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 2 2 0 1 0 5
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 1 1 3 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
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 3 1 0 0 0 4
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 4 0 0 0 0 4
New York Genome Center 0 3 1 0 0 0 4
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 3 0 0 0 3
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 1 1 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 2 0 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 1 1 0 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 2 0 0 0 0 2
Diagnostic Laboratory, Strasbourg University Hospital 0 0 2 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
Integrated Genetics/Laboratory Corporation of America 0 0 1 0 0 0 1
Mayo Clinic 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
Clinical Genomics Laboratory,Laboratory for Precision Diagnostics, University of Washington 0 1 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
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 0 1 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 1 0 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
GenomeConnect - CFC International 0 0 0 0 0 1 1
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 0 0 1 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 1 0 0 0 0 1

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