ClinVar Miner

Variants in gene SCN2A

Minimum submission review status: Collection method:
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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
117 129 328 250 109 3 817

Condition and significance breakdown #

Total conditions: 24
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 68 72 141 124 75 1 458
not specified 0 0 36 106 55 0 177
Benign familial neonatal-infantile seizures; Early infantile epileptic encephalopathy 11 26 13 103 11 2 1 155
Benign familial neonatal-infantile seizures 13 16 54 40 8 0 129
Early Infantile Epileptic Encephalopathy, Autosomal Dominant 0 0 50 40 6 0 96
History of neurodevelopmental disorder 1 2 21 30 12 0 66
Early infantile epileptic encephalopathy 11 17 16 6 1 0 0 37
Inborn genetic diseases 6 1 8 0 0 0 15
Epileptic encephalopathy 2 5 0 0 0 0 7
See cases 1 1 1 0 0 0 3
Seizures 1 1 1 0 0 0 3
Rolandic epilepsy 2 0 0 0 0 0 2
Autism Spectrum Disorder with Intellectual Disability 0 1 0 0 0 0 1
Autistic disorder of childhood onset 1 0 0 0 0 0 1
Episodic ataxia; Seizures; Vertigo 1 0 0 0 0 0 1
Focal epilepsy 0 1 0 0 0 0 1
Global developmental delay; Seizures; Abnormality of movement 0 1 0 0 0 0 1
Malignant migrating partial seizures of infancy 1 0 0 0 0 0 1
Marfanoid habitus and intellectual disability 0 1 0 0 0 0 1
Mental retardation, autosomal dominant 1 0 0 0 0 0 1
Pyridoxine-dependent epilepsy 0 0 1 0 0 0 1
SCN2A-related condition 1 0 0 0 0 0 1
SCN2A-related disorder 0 0 0 0 0 1 1
intellectual deficiency 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 43
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GeneDx 66 65 83 121 89 0 424
Invitae 25 9 92 104 36 0 266
Illumina Clinical Services Laboratory,Illumina 0 0 50 40 6 0 96
Ambry Genetics 7 3 29 30 12 0 81
Genetic Services Laboratory, University of Chicago 5 3 26 14 9 0 57
CeGaT Praxis fuer Humangenetik Tuebingen 0 4 35 11 0 0 50
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 3 25 1 6 0 36
Athena Diagnostics Inc 2 0 8 5 11 0 26
Mendelics 1 11 5 1 2 0 20
Génétique des Maladies du Développement, Hospices Civils de Lyon 7 5 1 1 0 0 14
OMIM 12 0 0 0 0 0 12
Fulgent Genetics,Fulgent Genetics 2 0 8 0 0 0 10
Neurogenetics Laboratory - MEYER,AOU Meyer 3 6 0 0 0 0 9
PreventionGenetics,PreventionGenetics 0 0 0 0 8 0 8
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 5 0 0 0 0 5
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 3 1 0 0 5
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 2 3 0 0 0 0 5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 4 0 0 0 5
Baylor Genetics 1 1 2 0 0 0 4
Institute of Human Genetics,Klinikum rechts der Isar 3 1 0 0 0 0 4
UCLA Clinical Genomics Center, UCLA 0 3 0 0 0 0 3
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 2 1 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 2 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 1 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 1 0 0 0 0 2
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 0 1 0 0 0 2
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 1 1 0 0 0 0 2
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 1 1 0 0 0 2
Bioinformatics Core,Luxembourg Center for Systems Biomedicine 2 0 0 0 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 1 0 0 0 1
ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories 0 0 1 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 1 0 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1
ISCA site 1 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 1
Centre de Biologie Pathologie Génétique,Centre Hospitalier Universitaire de Lille 1 0 0 0 0 0 1
Laboratory of Molecular Genetics,CHU RENNES 0 1 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 0 0 0 1
Undiagnosed Diseases Network,NIH 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 1

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