ClinVar Miner

Variants in gene SCN1A

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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 drug response not provided total
890 439 906 519 124 1 119 2580

Condition and significance breakdown #

Total conditions: 62
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Condition pathogenic likely pathogenic uncertain significance likely benign benign drug response not provided total
Early-infantile DEE 479 125 492 436 39 0 0 1571
not provided 222 148 389 109 81 0 6 898
Severe myoclonic epilepsy in infancy 215 100 38 1 3 0 90 399
Inborn genetic diseases 21 15 76 39 6 0 0 157
Generalized epilepsy with febrile seizures plus, type 2 58 29 48 5 3 0 1 143
not specified 0 0 36 66 53 0 0 142
Developmental and epileptic encephalopathy 59 10 21 2 0 0 0 92
SCN1A-related disorder 11 9 18 17 3 0 0 58
Migraine, familial hemiplegic, 3 12 7 20 9 6 0 0 53
Migraine, familial hemiplegic, 3; Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2; Developmental and epileptic encephalopathy 6B 14 6 18 2 2 0 0 42
Developmental and epileptic encephalopathy 6B 5 14 10 1 0 0 1 31
Seizure 18 8 5 0 0 0 0 31
Migraine, familial hemiplegic, 3; Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2 6 2 5 0 0 0 0 13
Generalized epilepsy with febrile seizures plus, type 1 0 2 0 0 0 0 8 10
Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2 5 2 3 0 0 0 0 10
Autosomal dominant epilepsy 5 4 0 0 0 0 0 9
Generalized epilepsy with febrile seizures plus 0 2 2 2 1 0 0 7
See cases 5 0 1 0 0 0 1 7
Developmental and epileptic encephalopathy, 6A 3 1 2 0 0 0 0 6
Epilepsy 2 3 0 0 1 0 0 6
Intellectual disability 2 0 3 1 0 0 0 6
Generalized epilepsy 0 0 0 0 0 0 4 4
Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2; Developmental and epileptic encephalopathy 6B 1 1 1 0 0 0 1 4
Developmental and epileptic encephalopathy, 1 2 1 0 0 0 0 0 3
Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2; Febrile seizures, familial, 3a; Developmental and epileptic encephalopathy 6B 2 1 0 0 0 0 0 3
Epileptic encephalopathy 2 0 0 0 0 0 0 2
Febrile seizures, familial, 3a 2 0 0 0 0 0 0 2
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 0 2 2
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 2 2
SCN1A Seizure Disorders 2 0 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 1
Autism 0 0 1 0 0 0 0 1
Autism; Global developmental delay; Seizure 1 0 0 0 0 0 0 1
Autosomal dominant SCN1A-related disorder 0 0 1 0 0 0 0 1
Complex neurodevelopmental disorder 0 0 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 76 1 0 0 0 0 0 0 1
Familial hemiplegic migraine 0 0 0 0 0 0 1 1
Febrile seizure (within the age range of 3 months to 6 years) 1 0 0 0 0 0 0 1
Focal impaired awareness seizure 1 0 0 0 0 0 0 1
Gastric cancer 0 0 0 0 0 0 1 1
Generalized epilepsy with febrile seizures plus, type 2; Developmental and epileptic encephalopathy 6B 0 1 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 1
Global developmental delay; Seizure 1 0 0 0 0 0 0 1
Lung cancer 0 0 0 0 0 0 1 1
Malignant tumor of esophagus 0 0 0 0 0 0 1 1
Malignant tumor of urinary bladder 0 0 0 0 0 0 1 1
Myoclonic epilepsy 0 0 1 0 0 0 0 1
Neonatal developmental and epileptic encephalopathy with movement disorders and arthrogryposis (NDEEMA) 0 1 0 0 0 0 0 1
Nonpapillary renal cell carcinoma 0 0 0 0 0 0 1 1
Obesity; Seizure; Intellectual disability 0 1 0 0 0 0 0 1
Ovarian cancer 0 0 0 0 0 0 1 1
Ovarian serous cystadenocarcinoma 0 0 0 0 0 0 1 1
SUDDEN INFANT DEATH SYNDROME 0 1 0 0 0 0 0 1
Seizure; Mild intellectual disability 1 0 0 0 0 0 0 1
Self-limited epilepsy with centrotemporal spikes 1 0 0 0 0 0 0 1
Severe myoclonic epilepsy in infancy; Developmental and epileptic encephalopathy 6B 0 1 0 0 0 0 0 1
Severe myoclonic epilepsy in infancy; Epilepsy 0 0 0 0 0 0 1 1
Severe myoclonic epilepsy in infancy; Familial hemiplegic migraine; Generalized epilepsy with febrile seizures plus; Developmental and epileptic encephalopathy 0 0 0 0 0 0 1 1
Sudden unexplained death in childhood 0 1 0 0 0 0 0 1
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 0 1 1
Uterine corpus endometrial carcinoma 0 0 0 0 0 0 1 1
carbamazepine response - Dosage 0 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 139
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign drug response not provided total
Labcorp Genetics (formerly Invitae), Labcorp 538 135 513 441 39 0 0 1666
GeneDx 167 105 270 95 95 0 0 732
CeGaT Center for Human Genetics Tuebingen 45 30 62 47 5 0 0 189
Ambry Genetics 21 15 76 39 6 0 0 157
Center for Bioinformatics, Peking University 129 0 0 0 0 0 0 129
Eurofins Ntd Llc (ga) 16 4 52 2 12 0 0 86
UniProtKB/Swiss-Prot 0 0 1 0 0 0 85 86
Mendelics 39 14 8 1 1 0 0 63
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 10 4 21 20 8 0 0 63
Athena Diagnostics 23 6 16 5 12 0 0 61
3billion 17 21 12 0 0 0 0 50
PreventionGenetics, part of Exact Sciences 8 2 11 18 11 0 0 50
Institute of Human Genetics, University of Leipzig Medical Center 23 16 5 0 0 0 0 44
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 12 9 0 0 19 0 0 40
Breakthrough Genomics, Breakthrough Genomics 1 0 1 6 30 0 0 38
Channelopathy-Associated Epilepsy Research Center 0 0 0 0 0 0 37 37
Illumina Laboratory Services, Illumina 2 0 26 10 6 0 0 36
Revvity Omics, Revvity 9 2 24 0 0 0 0 35
Génétique des Maladies du Développement, Hospices Civils de Lyon 23 5 0 0 0 0 0 28
Neuberg Centre For Genomic Medicine, NCGM 7 7 13 0 0 0 0 27
Lifecell International Pvt. Ltd 9 11 7 0 0 0 0 26
Mayo Clinic Laboratories, Mayo Clinic 8 2 3 1 12 0 0 26
Fulgent Genetics, Fulgent Genetics 9 4 9 2 1 0 0 25
Genome Diagnostics Laboratory, University Medical Center Utrecht 3 0 0 9 7 0 0 19
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 5 8 4 0 1 0 0 18
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 9 1 8 0 0 0 0 18
Centre for Mendelian Genomics, University Medical Centre Ljubljana 5 7 3 1 0 0 0 16
Genetic Services Laboratory, University of Chicago 1 3 2 8 1 0 0 15
Baylor Genetics 2 6 5 0 0 0 0 13
Juno Genomics, Hangzhou Juno Genomics, Inc 3 4 6 0 0 0 0 13
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 10 2 1 0 0 0 0 13
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 3 0 1 5 3 0 0 12
Diagnostic Laboratory, Strasbourg University Hospital 4 3 5 0 0 0 0 12
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 5 1 1 1 4 0 0 12
OMIM 11 0 0 0 0 0 0 11
Center of Excellence for Medical Genomics, Chulalongkorn University 8 1 0 0 0 0 0 9
Department of Neurology, Zibo Changguo Hospital 6 3 0 0 0 0 0 9
ClinGen Epilepsy Sodium Channel Variant Curation Expert Panel, Clingen 1 3 2 2 0 0 0 8
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 0 8 8
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 1 0 0 3 4 0 0 8
MGZ Medical Genetics Center 3 5 0 0 0 0 0 8
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 5 2 0 0 7
Department of Human Genetics, Hannover Medical School 3 3 1 0 0 0 0 7
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 6 0 1 0 0 7
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 4 1 0 1 0 0 0 6
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 2 4 0 0 0 0 0 6
Dasa 3 2 1 0 0 0 0 6
Institute of Human Genetics Munich, TUM University Hospital 5 1 0 0 0 0 0 6
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 5 1 0 0 0 0 6
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 4 0 0 5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 3 0 2 0 0 0 0 5
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 2 2 1 0 0 0 0 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 3 2 0 0 0 0 5
Pediatric Department, Xiangya Hospital, Central South University 5 0 0 0 0 0 0 5
Clinical Genetics Laboratory, Skane University Hospital Lund 3 1 0 0 0 0 0 4
Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry 4 0 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 4
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 3 0 1 0 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 0 4 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 1 1 0 0 0 0 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 3 0 0 0 0 0 4
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 4 0 0 0 0 0 0 4
Neurogenetics Laboratory - MEYER, AOU Meyer 3 1 0 0 0 0 0 4
New York Genome Center 0 0 4 0 0 0 0 4
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 1 1 0 1 0 0 3
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 1 1 1 0 0 0 3
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 2 0 1 0 0 0 0 3
Daryl Scott Lab, Baylor College of Medicine 0 0 3 0 0 0 0 3
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 1 1 1 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 3 0 0 0 0 3
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 2 1 0 0 0 0 3
Institute of Immunology and Genetics Kaiserslautern 2 1 0 0 0 0 0 3
Laboratory of Genetics, Children's Clinical University Hospital Latvia 1 0 1 1 0 0 0 3
MVZ Medizinische Genetik Mainz 1 0 2 0 0 0 0 3
Pediatric Neurology Unit, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research 3 0 0 0 0 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 2 1 0 0 0 0 3
Suma Genomics 1 1 1 0 0 0 0 3
AiLife Diagnostics, AiLife Diagnostics 1 0 1 0 0 0 0 2
Blueprint Genetics 1 1 0 0 0 0 0 2
Center for Statistical Genetics, Columbia University 0 1 1 0 0 0 0 2
Center of Human Genetics, Hôpital Erasme 1 1 0 0 0 0 0 2
Centre for Medical Genetics, Mumbai 0 0 1 1 0 0 0 2
Centre of Medical Genetics, University Hospital Muenster 1 0 1 0 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 1 0 0 0 0 2
Department of Developmental Neurology, Medical University of Gdańsk 0 0 0 0 0 0 2 2
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 0 2 0 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 0 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 2 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 0 0 0 0 0 2
Human Genetics Bochum, Ruhr University Bochum 1 1 0 0 0 0 0 2
Human Genetics Unit, University Of Colombo 0 2 0 0 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 2 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 1 1 0 0 0 0 2
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 2 0 0 0 0 0 0 2
Molecular Genetics Lab, CHRU Brest 2 0 0 0 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 2 0 0 0 0 0 0 2
Robert's Program, Boston Children's Hospital 0 2 0 0 0 0 0 2
School of Medicine NGS Core Facility, Fu Jen Catholic University 2 0 0 0 0 0 0 2
Anoual Laboratory of Radio-Immuno Analysis 1 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 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 0 1
Bioinformatics Core, Luxembourg Center for Systems Biomedicine 1 0 0 0 0 0 0 1
Breda Genetics srl, Breda Genetics srl 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 1
Cavalleri Lab, Royal College of Surgeons in Ireland 0 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 0 1
Center of Medical Genomics-TUH, Thammasat University 1 0 0 0 0 0 0 1
ClinPGx 0 0 0 0 0 1 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 1 0 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 0 0 1
Cytoplasmic Inheritance Laboratory, Institute of Genetics and Cytology 0 1 0 0 0 0 0 1
DECIPHER, Wellcome Sanger Institute 0 0 0 0 0 0 1 1
Department of Clinical Genetics, Medical University of Lodz 1 0 0 0 0 0 0 1
Department of Medical Genetics, National Institute of Health 1 0 0 0 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 0 1 0 0 0 0 0 1
GeneReviews 0 0 0 0 0 0 1 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 0 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 1 0 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 1 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 0 1 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 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 0 1 0 0 0 1
MVZ Martinsried, Medicover Genetics 0 1 0 0 0 0 0 1
Medical and Scientific Branch, Hong Kong Genome Institute 0 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 0 1
Molecular Genetics laboratory, Necker Hospital 0 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 0 1
Payam Genetics Center, General Welfare Department of North Khorasan Province 1 0 0 0 0 0 0 1
Pediatrics, MediClubGeorgia 1 0 0 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 1 0 0 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 1 0 0 0 0 0 0 1
Rare Disease Group, Clinical Genetics, Karolinska Institutet 1 0 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 0 1
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 1 0 0 0 0 0 0 1
VIB - Center for Molecular Neurology, University of Antwerp 0 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 0 1

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