ClinVar Miner

Variants in gene SCN8A

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Minimum submission review status: Collection method:
Minimum conflict level:
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
62 56 215 192 44 2 505

Condition and significance breakdown #

Total conditions: 23
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 18 36 86 0 8 1 145
not specified 0 0 13 101 34 0 135
Early infantile epileptic encephalopathy 4 4 61 45 20 0 134
Early Infantile Epileptic Encephalopathy, Autosomal Dominant 0 0 55 46 8 0 109
History of neurodevelopmental disorder 3 1 7 35 8 0 54
Early infantile epileptic encephalopathy 13 39 10 4 0 0 0 50
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 2 3 0 0 0 5
Epileptic encephalopathy 2 2 1 0 0 0 5
COGNITIVE IMPAIRMENT WITHOUT CEREBELLAR ATAXIA 2 0 0 0 0 0 2
Cognitive impairment with or without cerebellar ataxia 1 1 0 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
Early infantile epileptic encephalopathy 13; Seizures, benign familial infantile, 5 0 0 1 0 0 0 1
Epilepsy 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
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
developmental delay with seizures 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GeneDx 17 30 49 84 30 0 210
Invitae 4 4 61 45 20 0 134
Illumina Clinical Services Laboratory,Illumina 0 0 55 46 8 0 109
Ambry Genetics 7 1 11 35 8 0 62
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
CeGaT Praxis fuer Humangenetik Tuebingen 0 3 16 0 0 0 19
OMIM 14 0 0 0 0 0 14
Athena Diagnostics Inc 0 0 4 0 9 0 13
PreventionGenetics 0 0 0 1 7 0 8
Neurogenetics Laboratory - MEYER,AOU Meyer 2 3 1 0 0 0 6
Fulgent Genetics 0 1 3 0 0 0 4
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 2 0 1 0 4
Baylor Miraca Genetics Laboratories, 0 2 1 0 0 0 3
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 3 0 0 0 3
Mendelics 2 1 0 0 0 0 3
HudsonAlpha Institute for Biotechnology 1 1 1 0 0 0 3
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 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
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 0 1 0 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
Laboratoire de Cytogenetique,Hospices Civils de Lyon 0 1 0 0 0 0 1

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