ClinVar Miner

Variants in gene SCN8A

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Gene type:

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
201 286 1200 859 138 79 2441

Condition and significance breakdown #

Total conditions: 67
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Early-infantile DEE 96 50 741 708 64 0 1659
not provided 71 93 422 181 91 2 814
Inborn genetic diseases 19 9 104 79 11 0 222
Developmental and epileptic encephalopathy, 13 40 81 69 3 9 36 210
not specified 0 0 30 89 44 0 149
Cognitive impairment with or without cerebellar ataxia 15 32 37 0 8 0 91
SCN8A-related disorder 3 13 31 24 1 1 73
Complex neurodevelopmental disorder 3 7 1 1 2 33 46
Seizures, benign familial infantile, 5 6 14 15 0 8 0 43
Developmental and epileptic encephalopathy 2 3 19 7 0 0 31
Myoclonus, familial, 2 2 3 3 0 8 0 16
Cognitive impairment with or without cerebellar ataxia; Developmental and epileptic encephalopathy, 13; Seizures, benign familial infantile, 5; Myoclonus, familial, 2 1 0 10 3 1 0 15
Cognitive impairment with or without cerebellar ataxia; Developmental and epileptic encephalopathy, 13; Seizures, benign familial infantile, 5 1 6 6 0 0 0 13
See cases 1 4 4 0 0 0 9
Intellectual disability 0 2 5 0 0 0 7
Neurodevelopmental disorder 1 3 3 0 0 0 7
Developmental and epileptic encephalopathy, 13; Seizures, benign familial infantile, 5 2 2 1 0 0 1 6
Epileptic encephalopathy 2 3 1 0 0 0 6
Seizure 3 0 2 0 0 0 5
Autosomal dominant SCN8A-related disorders 2 2 0 0 0 0 4
Cognitive impairment with or without cerebellar ataxia; Developmental and epileptic encephalopathy, 13 0 2 2 0 0 0 4
Global developmental delay; Seizure; Autosomal recessive inheritance 0 4 0 0 0 0 4
Acute myeloid leukemia 0 0 0 0 0 3 3
Gastric cancer 0 0 0 0 0 3 3
Global developmental delay; Seizure 1 2 0 0 0 0 3
Malignant tumor of esophagus 0 0 0 0 0 3 3
Ovarian serous cystadenocarcinoma 0 0 0 0 0 3 3
COGNITIVE IMPAIRMENT WITHOUT CEREBELLAR ATAXIA 2 0 0 0 0 0 2
Cervical cancer 0 0 0 0 0 2 2
Cholangiocarcinoma 0 0 0 0 0 2 2
Developmental and epileptic encephalopathy, 13; Seizures, benign familial infantile, 5; Myoclonus, familial, 2 0 0 1 0 0 1 2
Epilepsy 1 1 0 0 0 0 2
SCN8A-related complex neurodevelopmental disorder 0 0 2 0 0 0 2
Sarcoma 0 0 0 0 0 2 2
Seizure; Intellectual disability 0 2 0 0 0 0 2
Uterine carcinosarcoma 0 0 0 0 0 2 2
Uterine corpus endometrial carcinoma 0 0 0 0 0 2 2
Abnormal cerebral morphology 0 0 1 0 0 0 1
Autism 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
Developmental disorder 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
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; Severe intellectual disability; Epileptic encephalopathy 1 0 0 0 0 0 1
Hepatocellular carcinoma 0 0 0 0 0 1 1
Hereditary ataxia 0 0 1 0 0 0 1
Lung cancer 0 0 0 0 0 1 1
Malaria, susceptibility to 1 0 0 0 0 0 1
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 1 1
Malignant tumor of urinary bladder 0 0 0 0 0 1 1
Moderate intellectual disability 0 0 1 0 0 0 1
Myoclonus 0 1 0 0 0 0 1
SCN8A-related epileptic disorder 0 1 0 0 0 0 1
SCN8A-related neurodevelopmental delay 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
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 1 1
Undetermined early-onset epileptic encephalopathy 0 1 0 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: 135
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 98 51 760 723 64 0 1696
GeneDx 59 65 284 144 110 0 662
Ambry Genetics 19 9 104 79 11 0 222
CeGaT Center for Human Genetics Tuebingen 12 16 76 78 1 0 183
PreventionGenetics, part of Exact Sciences 1 5 29 25 8 0 68
Institute of Human Genetics, University of Leipzig Medical Center 6 24 24 1 0 0 55
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 0 19 21 1 0 44
Eurofins Ntd Llc (ga) 1 2 28 4 7 0 42
Breakthrough Genomics, Breakthrough Genomics 0 0 3 16 21 0 40
GeneReviews 1 0 0 0 0 36 37
3billion 8 13 15 0 0 0 36
Channelopathy-Associated Epilepsy Research Center 0 0 0 0 0 33 33
Revvity Omics, Revvity 2 0 27 1 0 0 30
Baylor Genetics 3 12 11 0 0 0 26
Genetic Services Laboratory, University of Chicago 1 3 6 14 1 0 25
Mayo Clinic Laboratories, Mayo Clinic 0 2 9 2 12 0 25
Mendelics 9 10 2 1 0 0 22
Athena Diagnostics 2 0 6 0 12 0 20
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 1 1 11 6 0 19
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 5 1 0 12 0 18
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 9 7 0 17
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 6 4 7 0 0 0 17
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 16 16
OMIM 14 0 0 0 0 0 14
New York Genome Center 1 4 8 0 0 0 13
ClinGen Epilepsy Sodium Channel Variant Curation Expert Panel, Clingen 3 6 0 1 2 0 12
Fulgent Genetics, Fulgent Genetics 1 1 6 3 1 0 12
Génétique des Maladies du Développement, Hospices Civils de Lyon 6 5 1 0 0 0 12
Neuberg Centre For Genomic Medicine, NCGM 0 1 11 0 0 0 12
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 2 6 0 9
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 6 2 0 9
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 4 5 0 0 0 9
Genome-Nilou Lab 0 0 0 0 8 0 8
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 2 5 0 0 0 8
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 2 3 3 0 0 0 8
MVZ Martinsried, Medicover Genetics 0 4 4 0 0 0 8
Institute of Human Genetics Munich, TUM University Hospital 3 4 0 0 0 0 7
Variantyx, Inc. 2 5 0 0 0 0 7
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 5 0 0 0 0 6
Diagnostic Laboratory, Strasbourg University Hospital 1 0 5 0 0 0 6
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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 2 2 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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 0 3 1 0 5
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 1 4 0 0 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 2 2 0 1 0 5
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 4 0 0 0 5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 1 1 1 0 0 5
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 1 1 3 0 0 0 5
MVZ Medizinische Genetik Mainz 0 1 4 0 0 0 5
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 1 2 0 1 0 4
Center of Excellence for Medical Genomics, Chulalongkorn University 3 1 0 0 0 0 4
Clinical Genetics Laboratory, Skane University Hospital Lund 1 2 1 0 0 0 4
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 0 4 0 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Illumina Laboratory Services, Illumina 0 2 2 0 0 0 4
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 1 2 1 0 0 4
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 1 2 1 0 0 4
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 4 0 0 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 0 0 0 3
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 3 0 0 0 0 3
Centre of Medical Genetics, University Hospital Muenster 0 1 2 0 0 0 3
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 3 0 0 0 3
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 1 2 0 0 0 0 3
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 1 1 1 0 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 2 0 1 0 0 0 3
Center of Human Genetics, Hôpital Erasme 0 2 0 0 0 0 2
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 0 2 0 0 0 0 2
Dasa 2 0 0 0 0 0 2
Department of Human Genetics, Hannover Medical School 0 0 2 0 0 0 2
Department of Paediatric Medicine, Post Graduation Institute of Medical Education and Research 1 0 1 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 0 0 0 2
Duke University Health System Sequencing Clinic, Duke University Health System 1 1 0 0 0 0 2
Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital 0 2 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 1 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 2 0 0 0 0 2
Institute of Human Genetics, Cologne University 0 2 0 0 0 0 2
Laboratoire Génétique Moléculaire, CHRU TOURS 0 1 1 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 1 0 0 0 2
MGZ Medical Genetics Center 0 1 1 0 0 0 2
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 2 0 0 0 0 2
Molecular Genetics Laboratory, Motol Hospital 0 2 0 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 1 1 0 0 0 0 2
OLLIN Analises Genomicas, OLLIN 0 1 1 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 0 2
Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice-Université Côte d'Azur 0 2 0 0 0 0 2
Solve-RD Consortium 0 2 0 0 0 0 2
AiLife Diagnostics, AiLife Diagnostics 0 1 0 0 0 0 1
Breda Genetics srl, Breda Genetics srl 0 0 1 0 0 0 1
Bruce Lefroy Centre, Murdoch Childrens Research Institute 1 0 0 0 0 0 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 1 0 0 0 0 1
Centre for Addiction & Mental Health, Centre for Addiction & Mental Health 0 0 1 0 0 0 1
Cirak Lab, University Hospital Cologne 0 1 0 0 0 0 1
Clinical Genomics Laboratory, Laboratory for Precision Diagnostics, University of Washington 0 1 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 1
Department of Clinical Genetics, Medical University of Lodz 0 1 0 0 0 0 1
Department of Molecular Genetics, Istishari Arab Hospital 0 0 1 0 0 0 1
Department of Neurology, Zibo Changguo Hospital 0 1 0 0 0 0 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
Dubai Health Genomic Medicine Center, Dubai Health 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 0 0 1 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
GenomeConnect - CFC International 0 0 0 0 0 1 1
Genomics, Clalit Research Institute, Clalit Health Care 0 1 0 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, Uf Genomique Du Developpement, Assistance Publique Hopitaux de Paris Sorbonne Université 1 0 0 0 0 0 1
Imagene.me medical diagnostic laboratory, IMAGENE.ME SA 1 0 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 0 1 0 0 0 0 1
Lyon Laboratory, Cold Spring Harbor Laboratory 1 0 0 0 0 0 1
Medical and Scientific Branch, Hong Kong Genome Institute 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 1
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 0 0 1 0 0 0 1
NHS Central & South Genomic Laboratory Hub 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
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 1 0 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 0 0 1
Robert's Program, Boston Children's Hospital 0 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 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
Undiagnosed Diseases Network, NIH 0 1 0 0 0 0 1
Watson Genetic Lab 0 1 0 0 0 0 1

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