ClinVar Miner

Variants in gene SCN2A

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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
108 106 291 174 66 2 650

Condition and significance breakdown #

Total conditions: 21
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 68 69 128 4 6 1 272
not specified 0 0 36 106 55 0 177
Benign familial neonatal-infantile seizures; Early infantile epileptic encephalopathy 11 17 10 79 40 29 1 175
Benign familial neonatal-infantile seizures 11 5 50 40 6 0 112
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 14 13 4 0 0 0 29
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
Rolandic epilepsy 2 0 0 0 0 0 2
Seizures 0 1 1 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
Malignant migrating partial seizures of infancy 1 0 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
intellectual deficiency 0 1 0 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 66 65 83 95 52 0 361
Invitae 15 7 68 40 29 0 159
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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 3 25 1 6 0 36
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 20 3 0 0 24
Athena Diagnostics Inc 2 0 8 2 6 0 18
OMIM 12 0 0 0 0 0 12
Fulgent Genetics 2 0 8 0 0 0 10
Neurogenetics Laboratory - MEYER,AOU Meyer 3 6 0 0 0 0 9
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
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 4 0 0 0 5
Laboratoire de Cytogenetique,Hospices Civils de Lyon 2 2 1 0 0 0 5
Baylor Miraca Genetics Laboratories, 1 0 2 0 0 0 3
Institute of Human Genetics,Klinikum rechts der Isar 3 0 0 0 0 0 3
UCLA Clinical Genomics Center, UCLA 0 3 0 0 0 0 3
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 1 2 0 0 0 0 3
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 2 0 0 0 2
HudsonAlpha Institute for Biotechnology 2 0 0 0 0 0 2
Laboratory of Molecular Genetics (Pr. Bezieau's lab),CHU de Nantes 1 0 1 0 0 0 2
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 2 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
GenomeConnect, ClinGen 0 0 0 0 0 2 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, Inc. 0 0 1 0 0 0 1
Mendelics 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
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 1
ISCA site 1 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 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
Undiagnosed Diseases Network,NIH 1 0 0 0 0 0 1

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