ClinVar Miner

Variants in gene SCN1A

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Gene type:
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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 drug response risk factor not provided total
770 358 717 438 136 1 1 92 2185

Condition and significance breakdown #

Total conditions: 48
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Condition pathogenic likely pathogenic uncertain significance likely benign benign drug response risk factor not provided total
Early infantile epileptic encephalopathy with suppression bursts 447 126 446 362 38 0 0 0 1419
not provided 188 119 258 100 100 0 0 0 721
Severe myoclonic epilepsy in infancy 192 71 23 1 2 0 0 73 329
Generalized epilepsy with febrile seizures plus, type 2 52 22 41 5 3 0 0 1 124
Inborn genetic diseases 17 12 26 33 6 0 0 0 94
not specified 0 0 19 49 33 0 0 0 90
Migraine, familial hemiplegic, 3 12 7 20 9 6 0 0 0 53
SCN1A-related condition 6 1 8 13 2 0 0 0 30
Epilepsy 1 1 10 9 3 0 0 0 24
Migraine, familial hemiplegic, 3; Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2; Developmental and epileptic encephalopathy 6B 10 2 8 2 1 0 0 0 23
Seizure 9 7 5 0 0 0 0 0 21
Developmental and epileptic encephalopathy 6B 3 6 5 0 0 0 0 1 15
Migraine, familial hemiplegic, 3; Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2 6 2 5 0 2 0 0 0 15
Generalized epilepsy with febrile seizures plus, type 1 0 2 0 0 0 0 0 8 10
Autosomal dominant epilepsy 4 4 0 0 0 0 0 0 8
Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2 3 2 2 0 0 0 0 0 7
Familial hemiplegic migraine 0 0 0 3 1 0 0 1 5
Intellectual disability 2 0 2 1 0 0 0 0 5
See cases 4 0 0 0 0 0 0 1 5
Developmental and epileptic encephalopathy, 6 3 0 1 0 0 0 0 0 4
Generalized epilepsy 0 0 0 0 0 0 0 4 4
Developmental and epileptic encephalopathy, 1 2 1 0 0 0 0 0 0 3
Epileptic encephalopathy 2 0 0 0 0 0 0 0 2
Febrile seizures, familial, 3a 1 0 0 0 0 0 1 0 2
Generalized epilepsy with febrile seizures plus 0 0 1 0 1 0 0 0 2
SCN1A-related conditions 0 1 1 0 0 0 0 0 2
Anterior creases of earlobe; Camptodactyly of 2nd-5th fingers; Congenital contracture; Hip contracture; Knee flexion contracture; Clinodactyly 0 0 1 0 0 0 0 0 1
Autism 0 0 1 0 0 0 0 0 1
Autism; Global developmental delay; Seizure 1 0 0 0 0 0 0 0 1
Autosomal dominant SCN1A-related disorder 0 0 1 0 0 0 0 0 1
Childhood epilepsy with centrotemporal spikes 1 0 0 0 0 0 0 0 1
Developmental and epileptic encephalopathy, 76 1 0 0 0 0 0 0 0 1
Febrile seizure (within the age range of 3 months to 6 years) 1 0 0 0 0 0 0 0 1
Focal impaired awareness seizure 1 0 0 0 0 0 0 0 1
Global developmental delay; Abnormality of the nervous system; Atypical behavior; Aggressive behavior; Gait disturbance; Intellectual disability; Impulsivity 0 0 0 1 0 0 0 0 1
Global developmental delay; Seizure 1 0 0 0 0 0 0 0 1
Migraine, familial hemiplegic, 3; Severe myoclonic epilepsy in infancy; Febrile seizures, familial, 1; Generalized epilepsy with febrile seizures plus, type 2 0 0 0 0 0 0 0 1 1
Obesity; Seizure; Intellectual disability 0 1 0 0 0 0 0 0 1
SCN1A Seizure Disorders 1 0 0 0 0 0 0 0 1
SUDDEN INFANT DEATH SYNDROME 0 1 0 0 0 0 0 0 1
Seizure; Intellectual disability, mild 1 0 0 0 0 0 0 0 1
Severe myoclonic epilepsy in infancy; Developmental and epileptic encephalopathy 6B 0 1 0 0 0 0 0 0 1
Severe myoclonic epilepsy in infancy; Epilepsy 0 0 0 0 0 0 0 1 1
Severe myoclonic epilepsy in infancy; Familial hemiplegic migraine; Generalized epilepsy with febrile seizures plus; Early infantile epileptic encephalopathy with suppression bursts 0 0 0 0 0 0 0 1 1
Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2; Developmental and epileptic encephalopathy 6B 0 0 1 0 0 0 0 0 1
Sudden unexplained death in childhood 0 1 0 0 0 0 0 0 1
carbamazepine response - Dosage 0 0 0 0 0 1 0 0 1
myoclonic epilepsy 0 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 115
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign drug response risk factor not provided total
Invitae 447 126 446 365 38 0 0 0 1422
GeneDx 144 83 156 94 95 0 0 0 572
CeGaT Center for Human Genetics Tuebingen 41 25 46 35 6 0 0 0 153
Center for Bioinformatics, Peking University 129 0 0 0 0 0 0 0 129
Ambry Genetics 17 12 26 33 6 0 0 0 94
Eurofins Ntd Llc (ga) 16 4 52 2 12 0 0 0 86
UniProtKB/Swiss-Prot 0 0 1 0 0 0 0 85 86
Mendelics 39 14 8 1 1 0 0 0 63
Athena Diagnostics Inc 20 4 14 4 9 0 0 0 51
Illumina Laboratory Services, Illumina 2 0 27 15 7 0 0 0 40
PreventionGenetics, part of Exact Sciences 6 1 8 14 10 0 0 0 39
Institute of Human Genetics, University of Leipzig Medical Center 18 13 5 0 0 0 0 0 36
Revvity Omics, Revvity 7 1 21 0 0 0 0 0 29
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 8 4 5 4 8 0 0 0 29
Lifecell International Pvt. Ltd 9 11 7 0 0 0 0 0 26
Fulgent Genetics, Fulgent Genetics 7 3 8 2 1 0 0 0 21
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center 0 0 0 0 20 0 0 0 20
Genome Diagnostics Laboratory, University Medical Center Utrecht 3 0 0 9 7 0 0 0 19
Génétique des Maladies du Développement, Hospices Civils de Lyon 15 4 0 0 0 0 0 0 19
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 5 4 8 0 0 0 0 0 17
Centre for Mendelian Genomics, University Medical Centre Ljubljana 5 7 3 1 0 0 0 0 16
3billion 8 5 3 0 0 0 0 0 16
Genetic Services Laboratory, University of Chicago 1 3 2 8 1 0 0 0 15
Diagnostic Laboratory, Strasbourg University Hospital 4 3 5 0 0 0 0 0 12
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 5 1 1 1 4 0 0 0 12
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 3 0 1 5 3 0 0 0 12
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 9 2 1 0 0 0 0 0 12
OMIM 10 0 0 0 0 0 1 0 11
Baylor Genetics 2 6 3 0 0 0 0 0 11
Mayo Clinic Laboratories, Mayo Clinic 6 1 2 0 0 0 0 0 9
Center of Excellence for Medical Genomics, Chulalongkorn University 8 1 0 0 0 0 0 0 9
MGZ Medical Genetics Center 3 5 0 0 0 0 0 0 8
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 1 0 0 3 4 0 0 0 8
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 5 2 0 0 0 7
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 7 0 0 0 0 0 0 0 7
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 3 0 0 0 0 0 6
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 5 1 0 0 0 0 0 6
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 4 1 0 1 0 0 0 0 6
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 2 3 0 0 0 0 0 0 5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 3 0 2 0 0 0 0 0 5
Pediatric Department, Xiangya Hospital, Central South University 5 0 0 0 0 0 0 0 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 3 2 0 0 0 0 0 5
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 4 0 0 0 0 0 0 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 1 1 0 0 0 0 0 4
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 2 1 0 0 0 0 0 4
Neurogenetics Laboratory - MEYER, AOU Meyer 3 1 0 0 0 0 0 0 4
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 4 0 0 0 0 0 0 0 4
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 2 1 1 0 0 0 0 0 4
New York Genome Center 0 0 4 0 0 0 0 0 4
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 2 0 1 0 0 0 0 0 3
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 2 1 0 0 0 0 0 3
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 1 1 1 0 0 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 3 0 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 0 0 3 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 2 0 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 1 1 0 0 0 0 0 2
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 2 0 0 0 0 0 0 0 2
Blueprint Genetics 1 1 0 0 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 0 0 0 0 0 0 2
Center for Statistical Genetics, Columbia University 0 1 1 0 0 0 0 0 2
Human Genetics Unit, University Of Colombo 0 2 0 0 0 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 2 0 0 0 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 0 0 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 1 0 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 2 0 0 0 0 0 0 2
Robert's Program, Boston Children's Hospital 0 2 0 0 0 0 0 0 2
AiLife Diagnostics, AiLife Diagnostics 1 0 1 0 0 0 0 0 2
Department of Laboratory Medicine, Yonsei University College of Medicine 0 2 0 0 0 0 0 0 2
Molecular Genetics Lab, CHRU Brest 2 0 0 0 0 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 1 0 0 0 0 0 0 2
DASA 0 2 0 0 0 0 0 0 2
School of Medicine NGS Core Facility, Fu Jen Catholic University 2 0 0 0 0 0 0 0 2
Human Genetics Bochum, Ruhr University Bochum 1 1 0 0 0 0 0 0 2
Department of Developmental Neurology, Medical University of Gdańsk 0 0 0 0 0 0 0 2 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 1 0 0 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 0 0 1
GeneReviews 0 0 0 0 0 0 0 1 1
Quest Diagnostics Nichols Institute San Juan Capistrano 1 0 0 0 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 1 0 0 0 0 0 0 0 1
PharmGKB 0 0 0 0 0 1 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 0 1 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 1 0 0 0 0 0 1
Department of Medical Genetics, National Institute of Health 1 0 0 0 0 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 0 1 0 0 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 0 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 0 0 1
Rare Disease Group, Clinical Genetics, Karolinska Institutet 1 0 0 0 0 0 0 0 1
Bioinformatics Core, Luxembourg Center for Systems Biomedicine 1 0 0 0 0 0 0 0 1
Anoual Laboratory of Radio-Immuno Analysis 1 0 0 0 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 0 1 0 0 0 0 0 0 1
Breda Genetics srl 0 1 0 0 0 0 0 0 1
Cytoplasmic Inheritance Laboratory, Institute of Genetics and Cytology 0 1 0 0 0 0 0 0 1
VIB - Center for Molecular Neurology, University of Antwerp 0 1 0 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 0 0 0 0 1
Molecular Genetics laboratory, Necker Hospital 0 1 0 0 0 0 0 0 1
Pediatrics, MediClubGeorgia 1 0 0 0 0 0 0 0 1
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 0 1 0 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 1 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 0 0 1
DECIPHER, Wellcome Sanger Institute 0 0 0 0 0 0 0 1 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 0 0 0 0 1
Payam Genetics Center, General Welfare Department of North Khorasan Province 1 0 0 0 0 0 0 0 1
Medizinische Genetik Mainz, Limbach Genetics GmbH 1 0 0 0 0 0 0 0 1
Department of Clinical Genetics, Medical University of Lodz 1 0 0 0 0 0 0 0 1

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