ClinVar Miner

Variants in gene combination LOC102724058, SCN1A

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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 not provided total
382 210 443 187 58 106 1179

Condition and significance breakdown #

Total conditions: 38
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Early infantile epileptic encephalopathy with suppression bursts 161 49 252 85 14 0 561
not provided 117 112 132 62 18 3 417
Severe myoclonic epilepsy in infancy 134 29 21 4 3 78 241
not specified 0 0 27 65 28 0 111
Generalized epilepsy with febrile seizures plus, type 2 19 11 58 13 8 0 107
Familial hemiplegic migraine type 3 6 2 42 11 16 4 76
History of neurodevelopmental disorder 9 2 7 21 6 0 45
Epilepsy 0 0 20 17 3 0 40
Generalized epilepsy with febrile seizures plus, type 1 0 0 0 0 0 15 15
Familial hemiplegic migraine type 3; Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2 3 1 8 0 1 0 13
Inborn genetic diseases 5 3 3 0 0 0 11
Seizures 6 3 1 0 0 0 10
Autosomal dominant epilepsy 2 4 0 0 0 0 6
Familial hemiplegic migraine 0 0 3 1 0 0 4
Focal epilepsy 0 0 0 0 0 3 3
Intellectual disability 1 1 1 0 0 0 3
Epileptic encephalopathy 2 0 0 0 0 0 2
West syndrome 0 0 1 0 0 1 2
Autistic disorder of childhood onset 0 0 1 0 0 0 1
Autistic disorder of childhood onset; Focal seizures; Microcephaly 0 1 0 0 0 0 1
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B 1 0 0 0 0 0 1
Epileptic encephalopathy Lennox-Gastaut type 0 0 0 0 0 1 1
Generalized epilepsy with febrile seizures plus 0 0 0 0 1 0 1
Global developmental delay; Seizures 0 0 1 0 0 0 1
Hypertelorism; Megalencephaly; Sudden death; Seizures; Febrile seizures; Gliosis; Frontal bossing; Polymicrogyria; Abnormality of neuronal migration; Death in childhood; Hemimegalencephaly 1 0 0 0 0 0 1
Microcephaly 0 0 1 0 0 0 1
Myoclonic encephalopathy 0 0 0 0 0 1 1
Neurodevelopmental disorder 0 1 0 0 0 0 1
Plagiocephaly; Global developmental delay; Visual impairment; Cortical visual impairment; Generalized hypotonia; Hypsarrhythmia; Postnatal microcephaly; Posterior plagiocephaly; Epileptic encephalopathy; Infantile spasms; Mild microcephaly 0 0 0 1 0 0 1
Primary generalized epilepsy 0 1 0 0 0 0 1
Rolandic epilepsy 1 0 0 0 0 0 1
SCN1A Seizure Disorders 1 0 0 0 0 0 1
SCN1A-Related Disorders 0 0 0 0 1 0 1
Seizures; Delayed speech and language development 1 0 0 0 0 0 1
Seizures; Generalized tonic-clonic seizures; Absence seizures 0 0 1 0 0 0 1
Seizures; Intellectual disability 0 0 1 0 0 0 1
Severe myoclonic epilepsy in infancy; Acute encephalopathy 1 0 0 0 0 0 1
pharmacoresistant multifocal epilepsy 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 61
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 161 49 252 107 17 0 586
GeneDx 92 95 68 65 37 0 357
UniProtKB/Swiss-Prot 0 0 1 0 0 106 107
Center for Bioinformatics, Peking University 94 0 0 0 0 0 94
CeGaT Praxis fuer Humangenetik Tuebingen 25 11 31 10 0 0 77
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 8 4 45 6 8 0 71
Illumina Clinical Services Laboratory,Illumina 0 0 49 25 17 0 71
Ambry Genetics 13 4 9 21 6 0 53
Athena Diagnostics Inc 18 2 10 1 6 0 37
Mendelics 11 8 7 3 2 0 31
Integrated Genetics/Laboratory Corporation of America 2 4 6 3 6 0 21
Genetic Services Laboratory, University of Chicago 3 1 10 3 3 0 20
Institute of Human Genetics, University of Leipzig Medical Center 8 3 7 1 0 0 18
Baylor Genetics 1 4 11 0 0 0 16
OMIM 14 0 0 0 0 0 14
Génétique des Maladies du Développement, Hospices Civils de Lyon 5 5 1 0 0 0 10
Fulgent Genetics,Fulgent Genetics 2 0 7 0 0 0 9
PreventionGenetics, PreventionGenetics 0 0 0 3 5 0 8
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 2 4 2 0 0 0 8
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 2 2 2 0 0 0 6
Centre for Mendelian Genomics,University Medical Centre Ljubljana 3 2 1 0 0 0 6
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 5 0 0 0 0 5
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 5 0 0 0 0 0 5
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 0 0 1 0 0 4
Neurogenetics Laboratory - MEYER,AOU Meyer 3 1 0 0 0 0 4
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 2 0 0 3
NIHR Bioresource Rare Diseases, University of Cambridge 2 1 0 0 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 1 0 0 0 3
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 2 0 0 1 0 0 3
New York Genome Center 0 0 3 0 0 0 3
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 1 1 0 0 0 2
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 1 0 0 0 0 2
Institute of Human Genetics, Klinikum rechts der Isar 1 1 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 1 0 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 2 0 0 0 0 0 2
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 2 0 0 0 0 2
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 1 0 0 2
Cavalleri Lab, Royal College of Surgeons in Ireland 1 1 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 0 0 1 0 0 0 1
Blueprint Genetics 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 1 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 1 0 0 0 1
Diagnostic Laboratory, Strasbourg University Hospital 1 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 0 1 0 0 0 1
Kasturba Medical College, Manipal University 1 0 0 0 0 0 1
Undiagnosed Diseases Network,NIH 1 0 0 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 1 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 1 0 0 0 1
Bioinformatics Core,Luxembourg Center for Systems Biomedicine 1 0 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Cipher Gene Genetics Laboratory,Cipher Gene, Inc 0 1 0 0 0 0 1
Consultorio y Laboratorio de Neurogenética,Hospital JM Ramos Mejia 0 1 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 1 0 0 0 0 0 1
VIB - Center for Molecular Neurology,University of Antwerp 0 1 0 0 0 0 1
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 1 0 0 0 0 0 1
Research Center for Genetics and Reproductive Health,Viet Nam National University HCMC 1 0 0 0 0 0 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 0 0 0 1
Epilepsy and Neurogenetic Laboratory,Kaohsiung Chang Gung Memorial Hospital 0 1 0 0 0 0 1
Genetics and Prenatal Diagnosis Center,The First Affiliated Hospital of Zhengzhou University 0 1 0 0 0 0 1
Pediatrics, MediClubGeorgia 1 0 0 0 0 0 1

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