ClinVar Miner

Variants in gene SCN8A

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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 not provided total
138 209 938 728 136 40 1943

Condition and significance breakdown #

Total conditions: 46
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Early infantile epileptic encephalopathy with suppression bursts 71 45 648 603 64 0 1431
not provided 42 66 257 134 85 2 550
Developmental and epileptic encephalopathy, 13 31 59 45 1 9 36 156
Inborn genetic diseases 10 5 48 74 11 0 148
not specified 0 0 17 72 35 0 112
Cognitive impairment with or without cerebellar ataxia 12 18 26 0 8 0 63
Seizures, benign familial infantile, 5 6 5 12 0 8 0 31
SCN8A-related condition 0 3 16 0 0 0 19
Myoclonus, familial, 2 2 1 3 0 8 0 14
Cognitive impairment with or without cerebellar ataxia; Developmental and epileptic encephalopathy, 13; Seizures, benign familial infantile, 5 1 5 6 0 0 0 12
Cognitive impairment with or without cerebellar ataxia; Developmental and epileptic encephalopathy, 13; Seizures, benign familial infantile, 5; Myoclonus, familial, 2 0 0 7 3 1 0 11
Early Infantile Epileptic Encephalopathy, Autosomal Dominant 0 0 5 4 0 0 9
See cases 1 3 4 0 0 0 8
Epileptic encephalopathy 2 4 1 0 0 0 7
Neurodevelopmental disorder 1 3 3 0 0 0 7
SCN8A-related disorder 2 2 0 0 0 1 5
Seizure 1 1 3 0 0 0 5
Developmental and epileptic encephalopathy, 13; Seizures, benign familial infantile, 5 1 1 1 0 0 1 4
Global developmental delay; Seizure; Autosomal recessive inheritance 0 4 0 0 0 0 4
Global developmental delay; Seizure 1 2 0 0 0 0 3
COGNITIVE IMPAIRMENT WITHOUT CEREBELLAR ATAXIA 2 0 0 0 0 0 2
Cognitive impairment with or without cerebellar ataxia; Developmental and epileptic encephalopathy, 13 0 1 1 0 0 0 2
Epilepsy 1 1 0 0 0 0 2
Intellectual disability 0 0 2 0 0 0 2
SCN8A-related complex neurodevelopmental disorder 0 0 2 0 0 0 2
Seizure; Intellectual disability 0 2 0 0 0 0 2
Abnormal cerebral morphology 0 0 1 0 0 0 1
Autism; Seizure; Intellectual disability 0 1 0 0 0 0 1
Bilateral tonic-clonic seizure 0 0 1 0 0 0 1
Cerebellar ataxia; Intellectual disability 0 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 1 0 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 64 0 0 1 0 0 0 1
Fetal akinesia deformation sequence 1; Arthrogryposis multiplex congenita 0 1 0 0 0 0 1
Focal clonic seizure 0 0 1 0 0 0 1
Focal epilepsy 0 1 0 0 0 0 1
Focal impaired awareness seizure 0 1 0 0 0 0 1
Global developmental delay; Choreoathetosis; Leukoencephalopathy; Febrile seizure (within the age range of 3 months to 6 years) 0 1 0 0 0 0 1
Global developmental delay; Developmental regression; Developmental stagnation at onset of seizures; Generalized tonic seizure; Intellectual disability, severe; Epileptic encephalopathy 1 0 0 0 0 0 1
Intellectual disability, moderate 0 0 1 0 0 0 1
SCN8A-related disorders 0 1 0 0 0 0 1
SCN8A-related epileptic disorder 0 1 0 0 0 0 1
SUDDEN INFANT DEATH SYNDROME 0 0 1 0 0 0 1
Seizure; Epileptic encephalopathy; Infantile spasms 0 1 0 0 0 0 1
Spastic ataxia 0 0 1 0 0 0 1
West syndrome 0 1 0 0 0 0 1
developmental delay with seizures 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 94
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 71 45 648 613 64 0 1441
GeneDx 33 45 145 142 110 0 475
Ambry Genetics 10 5 48 74 11 0 148
CeGaT Center for Human Genetics Tuebingen 7 9 60 36 1 0 113
Eurofins Ntd Llc (ga) 1 2 28 4 7 0 42
Institute of Human Genetics, University of Leipzig Medical Center 4 17 21 0 0 0 42
GeneReviews 1 0 0 0 0 36 37
Preventiongenetics, part of Exact Sciences 0 3 16 1 7 0 27
Genetic Services Laboratory, University of Chicago 1 3 6 14 1 0 25
Revvity Omics, Revvity Omics 2 0 22 1 0 0 25
Baylor Genetics 3 10 11 0 0 0 24
Mendelics 9 10 1 1 0 0 21
Athena Diagnostics Inc 1 0 7 0 11 0 19
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 1 1 11 6 0 19
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 9 7 0 17
OMIM 14 0 0 0 0 0 14
Illumina Laboratory Services, Illumina 0 2 7 4 0 0 13
New York Genome Center 1 4 8 0 0 0 13
3billion 5 2 5 0 0 0 12
Fulgent Genetics, Fulgent Genetics 0 1 6 3 1 0 11
Génétique des Maladies du Développement, Hospices Civils de Lyon 4 5 1 0 0 0 10
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 6 2 0 9
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 2 6 0 9
Mayo Clinic Laboratories, Mayo Clinic 0 2 6 0 0 0 8
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 2 3 3 0 0 0 8
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 4 4 0 0 0 8
Genome-Nilou Lab 0 0 0 0 8 0 8
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 1 7 0 0 0 8
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 2 5 0 0 0 8
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 5 1 0 0 7
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 2 5 0 0 0 7
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 2 3 0 0 0 6
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 2 4 0 0 0 6
Diagnostic Laboratory, Strasbourg University Hospital 1 0 5 0 0 0 6
Neurogenetics Laboratory - MEYER, AOU Meyer 2 3 1 0 0 0 6
University of British Columbia, BC Children's Hospital 3 3 0 0 0 0 6
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 2 3 0 0 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 2 2 0 1 0 5
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 2 1 0 0 0 5
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 5 0 0 0 0 5
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 1 1 3 0 0 0 5
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 1 3 0 0 0 0 4
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 1 2 0 1 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 1 2 1 0 0 4
Center of Excellence for Medical Genomics, Chulalongkorn University 3 1 0 0 0 0 4
Department of Laboratory Medicine, Yonsei University College of 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
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 3 0 0 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 0 0 0 3
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 3 0 0 0 0 3
Institute of Human Genetics, University Hospital Muenster 0 1 2 0 0 0 3
Institute of Human Genetics, Cologne University 0 2 0 0 0 0 2
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 2 0 0 0 0 2
MGZ Medical Genetics Center 0 1 1 0 0 0 2
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 0 2 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 1 0 0 0 2
Duke University Health System Sequencing Clinic, Duke University Health System 1 1 0 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 1 1 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 1 0 0 0 2
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 1 0 1 0 0 0 2
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 1 1 0 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 2 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 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
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 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
Bruce Lefroy Centre, Murdoch Childrens Research Institute 1 0 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
Variantyx, Inc. 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 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
Laboratory of Medical Genetics, University of Torino 0 1 0 0 0 0 1
Breda Genetics srl 0 0 1 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
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 0 0 1 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 0 0 0 0 1
GenomeConnect - CFC International 0 0 0 0 0 1 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University 1 0 0 0 0 0 1
Robert's Program, Boston Children's Hospital 0 0 1 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 1 0 0 0 0 1
Laboratoire Génétique Moléculaire, CHRU TOURS 0 1 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 0 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 0 0 1

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