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
244 131 226 104 35 106 732

Condition and significance breakdown #

Total conditions: 28
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 96 102 115 3 2 3 312
Severe myoclonic epilepsy in infancy 113 11 4 1 1 78 187
Early infantile epileptic encephalopathy 42 17 74 23 16 0 172
not specified 0 0 26 63 28 0 108
History of neurodevelopmental disorder 9 2 10 20 4 0 45
Epilepsy 0 0 20 17 3 0 40
Familial hemiplegic migraine 0 0 20 17 3 0 40
Generalized epilepsy with febrile seizures plus, type 2 13 5 2 0 0 0 20
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 0 8 0 1 0 11
Inborn genetic diseases 5 1 2 0 0 0 8
Familial hemiplegic migraine type 3 3 0 0 0 0 4 4
Seizures 3 1 0 0 0 0 4
Autosomal dominant epilepsy 1 2 0 0 0 0 3
Focal epilepsy 0 0 0 0 0 3 3
Autistic disorder of childhood onset 0 0 1 0 0 0 1
Epileptic encephalopathy 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
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
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: 34
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GeneDx 90 92 68 57 25 0 332
Invitae 42 17 74 23 16 0 172
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
Ambry Genetics 13 3 11 20 4 0 50
Illumina Clinical Services Laboratory,Illumina 0 0 20 17 3 0 40
Athena Diagnostics Inc 18 0 6 0 5 0 29
CeGaT Praxis fuer Humangenetik Tuebingen 0 6 15 2 0 0 23
Genetic Services Laboratory, University of Chicago 3 1 11 2 3 0 20
Integrated Genetics/Laboratory Corporation of America 1 2 7 0 5 0 15
OMIM 12 0 0 0 0 0 12
Fulgent Genetics 2 0 7 0 0 0 9
PreventionGenetics 0 0 0 3 5 0 8
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 5 0 0 0 0 5
HudsonAlpha Institute for Biotechnology 2 0 1 1 0 0 4
Neurogenetics Laboratory - MEYER,AOU Meyer 3 1 0 0 0 0 4
Baylor Genetics 1 1 1 0 0 0 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 2 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
Center of Genomic medicine, Geneva,University Hospital of Geneva 2 0 0 0 0 0 2
Mendelics 0 1 0 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 1 0 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 0 1 0 0 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology,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
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
University Hospital of Lyon,Hospices Civils de Lyon 0 1 0 0 0 0 1

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