ClinVar Miner

Variants in gene SCN2A

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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 not provided total
179 217 538 300 128 5 1205

Condition and significance breakdown #

Total conditions: 32
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Seizures, benign familial infantile, 3; Early infantile epileptic encephalopathy 11 57 36 287 150 34 2 563
not provided 75 83 148 97 50 1 437
not specified 0 0 36 108 57 0 181
Seizures, benign familial infantile, 3 15 20 71 23 51 0 175
Early infantile epileptic encephalopathy 11 35 31 25 1 0 0 85
Complex neurodevelopmental disorder 39 33 12 0 0 0 84
History of neurodevelopmental disorder 1 2 19 32 12 0 66
Inborn genetic diseases 11 6 11 0 0 0 28
Early Infantile Epileptic Encephalopathy, Autosomal Dominant 0 0 16 2 0 0 18
Intellectual disability 4 4 3 0 0 0 11
Epileptic encephalopathy 2 6 0 0 0 0 8
Episodic ataxia type 9 5 0 0 0 0 0 5
See cases 2 2 1 0 0 0 5
Seizures 1 1 2 1 0 0 5
Seizures, benign familial infantile, 3; Early infantile epileptic encephalopathy 11; Episodic ataxia type 9 1 3 0 0 0 0 4
Rolandic epilepsy 2 0 0 0 0 0 2
SCN2A-related disorder 0 0 0 0 0 2 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; Movement disorder 0 1 0 0 0 0 1
Infantile spasms 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
Neurodevelopmental disorder 0 1 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 generalized epilepsy with febrile seizures plus 0 1 0 0 0 0 1
intellectual deficiency 0 1 0 0 0 0 1
none provided 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 63
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 55 30 278 171 37 0 571
GeneDx 67 65 83 121 89 0 425
Illumina Clinical Services Laboratory,Illumina 0 1 61 21 50 0 133
Ambry Genetics 12 8 30 32 12 0 94
GenomeConnect - Simons Searchlight 39 33 12 0 0 0 84
CeGaT Praxis fuer Humangenetik Tuebingen 5 10 40 23 0 0 78
Genetic Services Laboratory, University of Chicago 5 3 24 13 12 0 57
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 1 3 25 1 6 0 36
Athena Diagnostics Inc 2 1 10 5 15 0 33
OMIM 20 0 0 0 0 0 20
Mendelics 1 11 5 1 2 0 20
Génétique des Maladies du Développement, Hospices Civils de Lyon 9 7 1 3 0 0 20
Institute of Human Genetics, University of Leipzig Medical Center 4 3 12 0 0 0 19
Baylor Genetics 4 2 7 0 0 0 13
Fulgent Genetics,Fulgent Genetics 2 0 8 0 0 0 10
Diagnostic Laboratory, Strasbourg University Hospital 3 4 3 0 0 0 10
Neurogenetics Laboratory - MEYER,AOU Meyer 3 6 0 0 0 0 9
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 2 3 4 0 0 0 9
PreventionGenetics, PreventionGenetics 0 0 0 0 8 0 8
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 4 4 0 0 0 0 8
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 3 4 0 0 0 0 7
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
GenomeConnect, ClinGen 0 0 0 0 0 5 5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 4 0 0 0 5
Institute of Human Genetics, Klinikum rechts der Isar 3 1 0 0 0 0 4
Service de Génétique Moléculaire,Hôpital Robert Debré 1 3 0 0 0 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 2 0 0 0 0 4
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 1 2 0 0 0 4
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 3 1 0 0 0 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 3 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 2 0 0 3
UCLA Clinical Genomics Center, UCLA 0 3 0 0 0 0 3
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 0 3 0 0 0 0 3
Centogene AG - the Rare Disease Company 2 0 0 0 0 0 2
Integrated Genetics/Laboratory Corporation of America 0 0 2 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 0 2
Blueprint Genetics 0 2 0 0 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 1 0 0 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 2 0 0 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
Consultorio y Laboratorio de Neurogenética,Hospital JM Ramos Mejia 0 2 0 0 0 0 2
Pediatrics, MediClubGeorgia 1 1 0 0 0 0 2
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 1 1 0 0 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 1 0 0 0 1
Clinical Genetics laboratory, University of Goettingen 0 0 1 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 1 0 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
Laboratory of Molecular Genetics,CHU RENNES 0 1 0 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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Genetics and Prenatal Diagnosis Center,The First Affiliated Hospital of Zhengzhou University 0 1 0 0 0 0 1

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