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
299 107 192 93 54 1 1 86 726

Condition and significance breakdown #

Total conditions: 29
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Condition pathogenic likely pathogenic uncertain significance likely benign benign drug response risk factor not provided total
not provided 134 73 103 6 22 0 0 0 334
Severe myoclonic epilepsy in infancy 148 10 3 0 2 0 0 72 215
Early infantile epileptic encephalopathy 54 17 66 25 12 0 0 0 174
not specified 0 0 21 59 29 0 0 0 98
History of neurodevelopmental disorder 4 4 3 13 4 0 0 0 28
Epilepsy 0 0 10 9 3 0 0 0 22
Familial hemiplegic migraine 0 0 10 9 3 0 0 0 22
Generalized epilepsy with febrile seizures plus, type 2 14 3 1 0 0 0 0 1 18
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 1 0 0 0 0 0 0 0 8 8
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
Autistic disorder of childhood onset 0 0 1 0 0 0 0 0 1
Epileptic encephalopathy 1 0 0 0 0 0 0 0 1
Febrile seizures 1 0 0 0 0 0 0 0 1
Febrile seizures, familial, 3a 0 0 0 0 0 0 1 0 1
Generalized epilepsy with febrile seizures plus 0 0 0 0 1 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
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: 35
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign drug response risk factor not provided total
GeneDx 128 65 58 51 24 0 0 0 326
Invitae 54 17 66 25 12 0 0 0 174
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
Ambry Genetics 5 5 4 13 4 0 0 0 31
Athena Diagnostics Inc 15 0 7 2 4 0 0 0 28
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
CeGaT Praxis fuer Humangenetik Tuebingen 0 3 13 3 0 0 0 0 19
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 11 0 0 0 0 0 1 0 12
PreventionGenetics 0 0 0 1 9 0 0 0 10
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
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 Miraca Genetics Laboratories, 0 0 2 0 0 0 0 0 2
Mendelics 2 0 0 0 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology,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
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
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology 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
Undiagnosed Diseases Network,NIH 1 0 0 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 1 0 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 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

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