ClinVar Miner

Variants in gene SCN1A

See also:
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 drug response risk factor not provided total
461 190 390 166 101 1 1 86 1221

Condition and significance breakdown #

Total conditions: 40
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign drug response risk factor not provided total
Early infantile epileptic encephalopathy with suppression bursts 179 52 251 77 17 0 0 0 576
not provided 155 86 126 69 72 0 0 0 489
Severe myoclonic epilepsy in infancy 176 36 11 1 2 0 0 72 270
not specified 0 0 19 59 30 0 0 0 98
Generalized epilepsy with febrile seizures plus, type 2 19 4 28 5 3 0 0 1 60
Familial hemiplegic migraine type 3 5 6 21 9 6 0 0 0 47
History of neurodevelopmental disorder 4 4 2 12 6 0 0 0 28
Epilepsy 1 1 10 9 3 0 0 0 24
Familial hemiplegic migraine type 3; Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2 6 2 5 0 3 0 0 0 16
Generalized epilepsy with febrile seizures plus, type 1 0 2 0 0 0 0 0 8 10
Seizures 4 3 1 0 0 0 0 0 8
Intellectual disability 2 0 2 1 0 0 0 0 5
Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2 2 1 2 0 0 0 0 0 5
Familial hemiplegic migraine 0 0 0 3 1 0 0 0 4
Generalized epilepsy 0 0 0 0 0 0 0 4 4
Inborn genetic diseases 2 1 1 0 0 0 0 0 4
See cases 4 0 0 0 0 0 0 0 4
Autosomal dominant epilepsy 1 1 0 0 0 0 0 0 2
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B 2 0 0 0 0 0 0 0 2
Febrile seizures, familial, 3a 1 0 0 0 0 0 1 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
Autistic disorder of childhood onset 0 0 1 0 0 0 0 0 1
Autistic disorder of childhood onset; Global developmental delay; Seizures 1 0 0 0 0 0 0 0 1
Autosomal dominant SCN1A-related disorder 0 0 1 0 0 0 0 0 1
Epileptic encephalopathy 1 0 0 0 0 0 0 0 1
Epileptic encephalopathy, early infantile, 1 0 1 0 0 0 0 0 0 1
Febrile seizures 1 0 0 0 0 0 0 0 1
Focal seizures with impairment of consciousness or awareness 1 0 0 0 0 0 0 0 1
Generalized epilepsy with febrile seizures plus 0 0 0 0 1 0 0 0 1
Global developmental delay; Abnormality of the nervous system; Behavioral abnormality; Aggressive behavior; Gait disturbance; Intellectual disability; Impulsivity 0 0 0 1 0 0 0 0 1
Global developmental delay; Seizures 1 0 0 0 0 0 0 0 1
Obesity; Seizures; Intellectual disability 0 1 0 0 0 0 0 0 1
Rolandic epilepsy 1 0 0 0 0 0 0 0 1
Seizures; Intellectual disability, mild 1 0 0 0 0 0 0 0 1
Severe myoclonic epilepsy in infancy; Seizure disorder 0 0 0 0 0 0 0 1 1
antiepileptics response - Efficacy 0 0 0 0 0 1 0 0 1
carbamazepine response - Dosage 0 0 0 0 0 1 0 0 1
carbamazepine response - Efficacy 0 0 0 0 0 1 0 0 1
myoclonic epilepsy 0 0 1 0 0 0 0 0 1
phenytoin response - Dosage 0 0 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 58
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign drug response risk factor not provided total
Invitae 179 52 251 101 20 0 0 0 603
GeneDx 130 65 58 63 69 0 0 0 385
Center for Bioinformatics, Peking University 129 0 0 0 0 0 0 0 129
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 16 4 52 2 12 0 0 0 86
UniProtKB/Swiss-Prot 0 0 1 0 0 0 0 85 86
CeGaT Praxis fuer Humangenetik Tuebingen 29 15 30 8 0 0 0 0 82
Athena Diagnostics Inc 18 2 12 4 9 0 0 0 45
Illumina Clinical Services Laboratory,Illumina 0 0 27 15 7 0 0 0 38
Mendelics 18 10 6 1 0 0 0 0 34
Ambry Genetics 6 5 3 12 6 0 0 0 32
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 20 0 0 0 20
Institute of Human Genetics, University of Leipzig Medical Center 9 7 3 0 0 0 0 0 19
Centre for Mendelian Genomics,University Medical Centre Ljubljana 5 7 3 1 0 0 0 0 16
Integrated Genetics/Laboratory Corporation of America 5 1 3 1 5 0 0 0 15
Génétique des Maladies du Développement, Hospices Civils de Lyon 12 3 0 0 0 0 0 0 15
OMIM 12 0 0 0 0 0 1 0 13
Genetic Services Laboratory, University of Chicago 1 2 2 7 1 0 0 0 13
PreventionGenetics, PreventionGenetics 0 0 0 1 9 0 0 0 10
Fulgent Genetics,Fulgent Genetics 4 2 3 0 0 0 0 0 9
Baylor Genetics 1 3 3 0 0 0 0 0 7
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 6 1 0 0 0 0 0 0 7
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 5 1 0 0 0 0 0 6
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 2 3 0 0 0 0 0 0 5
Neurogenetics Laboratory - MEYER,AOU Meyer 3 1 0 0 0 0 0 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2 0 2 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
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 2 0 1 0 0 0 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 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
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 2 0 1 0 0 0 0 0 3
Blueprint Genetics 1 1 0 0 0 0 0 0 2
Institute of Human Genetics, Klinikum rechts der Isar 2 0 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
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 1 0 1 0 0 0 0 2
Diagnostic Laboratory, Strasbourg University Hospital 1 0 1 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
GenomeConnect, ClinGen 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
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
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 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
Center for Statistical Genetics, Columbia University 0 0 1 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
Human Genetics Unit,University of Colombo 0 1 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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 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
VIB - Center for Molecular Neurology,University of Antwerp 0 1 0 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 0 0 1
Pediatrics, MediClubGeorgia 1 0 0 0 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.