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
309 165 332 151 56 106 949

Condition and significance breakdown #

Total conditions: 30
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 113 111 123 56 16 3 397
Early infantile epileptic encephalopathy 92 23 154 20 14 0 303
Severe myoclonic epilepsy in infancy 128 22 13 4 3 78 222
not specified 0 0 26 64 28 0 109
Generalized epilepsy with febrile seizures plus, type 2 13 6 48 12 8 0 87
Familial hemiplegic migraine type 3 3 0 39 11 16 4 69
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 2 1 8 0 1 0 12
Inborn genetic diseases 5 1 2 0 0 0 8
Seizures 4 1 0 0 0 0 5
Familial hemiplegic migraine 0 0 3 1 0 0 4
Autosomal dominant epilepsy 1 2 0 0 0 0 3
Focal epilepsy 0 0 0 0 0 3 3
Epileptic encephalopathy 2 0 0 0 0 0 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
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
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
Myoclonic encephalopathy 0 0 0 0 0 1 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-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
West syndrome 0 0 0 0 0 1 1
pharmacoresistant multifocal epilepsy 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 41
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GeneDx 92 95 68 65 35 0 355
Invitae 92 23 154 64 17 0 350
UniProtKB/Swiss-Prot 0 0 1 0 0 106 107
Center for Bioinformatics, Peking University 94 0 0 0 0 0 94
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
CeGaT Praxis fuer Humangenetik Tuebingen 21 11 26 6 0 0 64
Ambry Genetics 13 3 8 21 6 0 50
Athena Diagnostics Inc 18 1 8 0 6 0 33
Mendelics 11 8 7 3 2 0 31
Genetic Services Laboratory, University of Chicago 3 1 11 2 3 0 20
Integrated Genetics/Laboratory Corporation of America 1 2 5 2 5 0 15
OMIM 13 0 0 0 0 0 13
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
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 5 0 0 0 0 5
Génétique des Maladies du Développement, Hospices Civils de Lyon 3 2 1 0 0 0 5
Baylor Genetics 1 2 1 0 0 0 4
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
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 2 0 0 1 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
Cavalleri Lab, Royal College of Surgeons in Ireland 1 1 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 1 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 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
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 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
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

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