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
721 435 1062 465 106 127 2500

Condition and significance breakdown #

Total conditions: 46
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Developmental and epileptic encephalopathy 469 151 672 365 39 0 1696
not provided 156 168 341 107 58 3 778
Severe myoclonic epilepsy in infancy 175 65 50 4 9 110 372
Generalized epilepsy with febrile seizures plus, type 2 53 26 81 13 9 0 179
Inborn genetic diseases 23 11 52 52 8 0 146
not specified 0 0 36 60 37 0 122
Migraine, familial hemiplegic, 3 13 4 42 11 16 4 85
Epilepsy 1 1 20 17 3 0 42
SCN1A-related disorder 1 6 10 24 1 0 41
Developmental and epileptic encephalopathy 6B 7 7 9 0 1 1 25
Generalized epilepsy with febrile seizures plus, type 1 1 1 0 0 0 15 17
Migraine, familial hemiplegic, 3; Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2; Developmental and epileptic encephalopathy 6B 3 3 10 1 0 0 17
Seizure 8 4 3 0 0 0 15
Migraine, familial hemiplegic, 3; Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2 3 1 7 0 0 0 11
Autosomal dominant epilepsy 4 5 0 0 0 0 9
See cases 1 2 3 0 0 0 6
Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2 0 3 3 0 0 0 6
Epileptic encephalopathy 2 3 0 0 0 0 5
Familial hemiplegic migraine 0 0 3 1 0 0 4
Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2; Developmental and epileptic encephalopathy 6B 1 1 2 0 0 0 4
Developmental and epileptic encephalopathy, 6A 2 0 1 0 0 0 3
Focal epilepsy 0 0 0 0 0 3 3
Intellectual disability 1 1 1 0 0 0 3
SCN1A Seizure Disorders 2 1 0 0 0 0 3
Severe myoclonic epilepsy in infancy; Developmental and epileptic encephalopathy 6B 0 2 0 0 0 0 2
West syndrome 0 0 1 0 0 1 2
Autism 0 0 1 0 0 0 1
Autism; Focal-onset seizure; Microcephaly 0 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 76 0 0 1 0 0 0 1
Focal-onset seizure 1 0 0 0 0 0 1
Generalized epilepsy with febrile seizures plus 0 0 0 0 1 0 1
Macrocephaly and epileptic encephalopathy 0 0 0 0 0 1 1
Microcephaly 0 0 1 0 0 0 1
Migraine, familial hemiplegic, 3; Generalized epilepsy with febrile seizures plus, type 2 0 0 1 0 0 0 1
Migraine, familial hemiplegic, 3; Severe myoclonic epilepsy in infancy; Febrile seizures, familial, 1; Generalized epilepsy with febrile seizures plus, type 2 0 0 0 0 0 1 1
Myoclonic encephalopathy 0 0 0 0 0 1 1
Neurodevelopmental disorder 0 1 0 0 0 0 1
Primary generalized epilepsy 0 1 0 0 0 0 1
SCN1A-related channelopathy 0 1 0 0 0 0 1
SCN1A-related epilepsy syndrome, recessive 0 0 1 0 0 0 1
SUDDEN INFANT DEATH SYNDROME 0 0 1 0 0 0 1
Seizure; Bilateral tonic-clonic seizure; Generalized non-motor (absence) seizure 0 0 1 0 0 0 1
Self-limited epilepsy with centrotemporal spikes 1 0 0 0 0 0 1
Severe myoclonic epilepsy in infancy; Acute encephalopathy 1 0 0 0 0 0 1
Sudden unexplained death in childhood 0 1 0 0 0 0 1
pharmacoresistant multifocal epilepsy 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 122
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 469 151 672 367 39 0 1698
GeneDx 119 123 210 100 72 0 624
CeGaT Center for Human Genetics Tuebingen 38 24 62 38 10 0 172
Ambry Genetics 23 11 52 52 8 0 146
UniProtKB/Swiss-Prot 0 0 1 0 0 106 107
Center for Bioinformatics, Peking University 94 0 0 0 0 0 94
Illumina Laboratory Services, Illumina 1 1 49 25 17 0 73
Eurofins Ntd Llc (ga) 8 4 45 6 8 0 71
Athena Diagnostics 25 4 13 3 7 0 52
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 4 5 21 10 12 0 52
Mendelics 26 8 4 4 7 0 49
PreventionGenetics, part of Exact Sciences 1 6 9 27 5 0 48
Institute of Human Genetics, University of Leipzig Medical Center 20 13 12 1 2 0 47
Revvity Omics, Revvity 5 6 33 0 0 0 44
Channelopathy-Associated Epilepsy Research Center 0 0 0 0 0 42 42
Neuberg Centre For Genomic Medicine, NCGM 5 6 21 0 0 0 32
Breakthrough Genomics, Breakthrough Genomics 0 0 1 20 8 0 29
Genetic Services Laboratory, University of Chicago 4 3 9 4 4 0 24
Génétique des Maladies du Développement, Hospices Civils de Lyon 12 11 1 0 0 0 23
3billion 6 7 9 0 0 0 22
Lifecell International Pvt. Ltd 5 7 7 0 0 0 19
Baylor Genetics 1 4 12 0 0 0 17
OMIM 16 0 0 0 0 0 16
Fulgent Genetics, Fulgent Genetics 5 0 10 1 0 0 16
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 7 6 0 0 3 0 16
MGZ Medical Genetics Center 2 7 4 0 0 0 13
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 8 2 3 0 0 0 13
Mayo Clinic Laboratories, Mayo Clinic 2 4 5 0 0 0 11
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 3 2 5 0 0 0 10
Genome Diagnostics Laboratory, University Medical Center Utrecht 3 0 0 3 3 0 9
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 3 3 3 0 0 0 9
New York Genome Center 1 1 7 0 0 0 9
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 7 1 0 0 0 0 8
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 2 4 2 0 0 0 8
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 0 4 0 0 0 7
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 1 1 4 0 7
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 5 0 0 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 2 1 0 0 0 6
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 2 2 0 5
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 4 1 0 0 0 0 5
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 5 0 0 0 0 5
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 4 1 0 0 5
Juno Genomics, Hangzhou Juno Genomics, Inc 0 4 1 0 0 0 5
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 2 2 0 5
Center of Excellence for Medical Genomics, Chulalongkorn University 4 1 0 0 0 0 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 4 0 0 0 5
Department of Neurology, Zibo Changguo Hospital 1 4 0 0 0 0 5
Diagnostic Laboratory, Strasbourg University Hospital 1 0 3 0 0 0 4
Neurogenetics Laboratory - MEYER, AOU Meyer 3 1 0 0 0 0 4
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 2 0 0 0 4
Center for Personalized Medicine, Children's Hospital Los Angeles 2 1 1 0 0 0 4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 4 0 0 4
DASA 4 0 0 0 0 0 4
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 2 0 0 3
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 2 0 0 0 0 3
NIHR Bioresource Rare Diseases, University of Cambridge 2 1 0 0 0 0 3
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 2 0 0 3
Clinical Genetics Laboratory, Skane University Hospital Lund 0 2 1 0 0 0 3
School of Medicine NGS Core Facility, Fu Jen Catholic University 2 0 1 0 0 0 3
ClinGen Epilepsy Sodium Channel Variant Curation Expert Panel, Clingen 1 1 0 0 1 0 3
Center of Human Genetics, Hôpital Erasme 2 1 0 0 0 0 3
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 1 1 0 0 0 2
Centogene AG - the Rare Disease Company 0 1 1 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 1 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 1 0 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 2 0 0 0 0 0 2
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 0 1 0 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 1 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 0 0 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 1 0 0 0 2
Cavalleri Lab, Royal College of Surgeons in Ireland 1 1 0 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 1 0 0 0 0 2
Robert's Program, Boston Children's Hospital 0 1 1 0 0 0 2
AiLife Diagnostics, AiLife Diagnostics 1 0 1 0 0 0 2
Genome-Nilou Lab 2 0 0 0 0 0 2
Pediatric Department, Xiangya Hospital, Central South University 2 0 0 0 0 0 2
Department of Developmental Neurology, Medical University of Gdańsk 0 0 0 0 0 2 2
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 0 0 0 0 0 1
Blueprint Genetics 1 0 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Hadassah Hebrew University Medical Center 0 0 0 1 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 1 0 0 0 0 1
Research Centre for Medical Genetics, Research Centre for Medical Genetics 0 1 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 1 0 0 0 1
Center for Statistical Genetics, Columbia University 1 0 0 0 0 0 1
Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice-Université Côte d'Azur 0 1 0 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
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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 0 1 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 0 0 0 1
Cipher Gene Genetics Laboratory, Cipher Gene, Inc 0 1 0 0 0 0 1
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 0 1 0 0 0 0 1
Breda Genetics srl 1 0 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 0 1
Cytogenetics and Genomics Lab, Cyprus Institute Of Neurology and Genetics 0 0 1 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 0 0 1
VIB - Center for Molecular Neurology, University of Antwerp 0 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 0 0 1
Research Center for Genetics and Reproductive Health, Viet Nam National University HCMC 1 0 0 0 0 0 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 0 0 0 1
Epilepsy and Neurogenetic Laboratory, Kaohsiung Chang Gung Memorial Hospital 0 1 0 0 0 0 1
Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 0 1 0 0 0 0 1
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 0 1 0 0 0 0 1
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 0 1 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 1
Pediatrics, MediClubGeorgia 1 0 0 0 0 0 1
Genomics, Clalit Research Institute, Clalit Health Care 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 1 0 0 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 1 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 0 1 0 0 0 0 1
Department of Clinical Genetics, Medical University of Lodz 0 1 0 0 0 0 1

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