ClinVar Miner

Variants in gene SCN1A

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Minimum submission review status: Collection method:
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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
332 136 233 134 103 1 1 86 897

Condition and significance breakdown #

Total conditions: 34
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Condition pathogenic likely pathogenic uncertain significance likely benign benign drug response risk factor not provided total
not provided 138 79 114 72 88 0 0 0 470
Severe myoclonic epilepsy in infancy 159 22 8 1 2 0 0 72 241
Early infantile epileptic encephalopathy 74 26 93 11 1 0 0 0 205
not specified 0 0 20 59 29 0 0 0 98
History of neurodevelopmental disorder 4 4 2 12 6 0 0 0 28
Epilepsy 1 0 10 9 3 0 0 0 23
Familial hemiplegic migraine 0 0 10 9 3 0 0 0 22
Familial hemiplegic migraine type 3; Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2 6 2 5 0 4 0 0 0 17
Generalized epilepsy with febrile seizures plus, type 2 13 1 1 0 0 0 0 1 16
Generalized epilepsy with febrile seizures plus, type 1 0 1 0 0 0 0 0 8 9
Generalized epilepsy 0 0 0 0 0 0 0 4 4
See cases 4 0 0 0 0 0 0 0 4
Seizures 1 2 1 0 0 0 0 0 4
Inborn genetic diseases 1 1 1 0 0 0 0 0 3
Autosomal dominant epilepsy 1 1 0 0 0 0 0 0 2
Febrile seizures, familial, 3a 1 0 0 0 0 0 1 0 2
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
Generalized epilepsy with febrile seizures plus 0 0 0 0 1 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; Generalized epilepsy with febrile seizures plus, type 2 0 0 1 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: 42
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign drug response risk factor not provided total
GeneDx 130 65 58 63 71 0 0 0 387
Invitae 74 26 93 67 20 0 0 0 280
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 0 10 22 6 0 0 0 0 38
Athena Diagnostics Inc 16 0 11 3 7 0 0 0 37
Mendelics 18 11 5 1 0 0 0 0 34
Ambry Genetics 5 5 3 12 6 0 0 0 31
Illumina Clinical Services Laboratory,Illumina 0 0 10 9 3 0 0 0 22
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 20 0 0 0 20
Genetic Services Laboratory, University of Chicago 1 2 3 6 1 0 0 0 13
Integrated Genetics/Laboratory Corporation of America 5 1 3 0 4 0 0 0 13
OMIM 10 0 0 0 0 0 1 0 11
PreventionGenetics,PreventionGenetics 0 0 0 1 9 0 0 0 10
Fulgent Genetics,Fulgent Genetics 4 2 3 0 0 0 0 0 9
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 5 1 0 0 0 0 0 6
Génétique des Maladies du Développement, Hospices Civils de Lyon 6 0 0 0 0 0 0 0 6
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
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 2 0 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
Baylor Genetics 0 0 2 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 0 1 1 0 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 1 0 0 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 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
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 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
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 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
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
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 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

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