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
766 502 1146 495 105 148 2684

Condition and significance breakdown #

Total conditions: 56
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Early-infantile DEE 467 159 685 390 38 0 1739
not provided 173 188 383 115 60 19 856
Severe myoclonic epilepsy in infancy 180 88 60 4 9 110 401
Generalized epilepsy with febrile seizures plus, type 2 57 29 85 13 9 0 189
Inborn genetic diseases 26 11 65 54 8 0 164
not specified 0 0 37 63 41 0 126
Migraine, familial hemiplegic, 3 13 4 43 11 16 4 86
SCN1A-related disorder 8 13 15 24 1 0 60
Developmental and epileptic encephalopathy 29 6 18 6 0 0 59
Developmental and epileptic encephalopathy 6B 9 9 10 0 1 1 30
Seizure 16 7 4 0 0 0 27
Migraine, familial hemiplegic, 3; Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2; Developmental and epileptic encephalopathy 6B 3 5 10 1 0 0 19
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 3 1 7 0 0 0 11
Autosomal dominant epilepsy 4 5 0 0 0 0 9
Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2 0 3 4 0 0 0 7
See cases 1 2 3 0 0 0 6
Epileptic encephalopathy 2 3 0 0 0 0 5
Ovarian serous cystadenocarcinoma 0 0 0 0 0 4 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
Generalized epilepsy with febrile seizures plus 0 1 1 0 1 0 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 1 0 0 0 3
Uterine corpus endometrial carcinoma 0 0 0 0 0 3 3
Epilepsy 1 1 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
Autosomal dominant SCN1A-related disorders 1 0 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
Gastric cancer 0 0 0 0 0 1 1
Macrocephaly and epileptic encephalopathy 0 0 0 0 0 1 1
Malignant tumor of esophagus 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
Mitochondrial disease 0 0 1 0 0 0 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 seizure disorder 1 0 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
Sarcoma 0 0 0 0 0 1 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
Uterine carcinosarcoma 0 0 0 0 0 1 1
Weaver syndrome 0 0 1 0 0 0 1
pharmacoresistant multifocal epilepsy 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 135
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 496 165 703 398 38 0 1800
GeneDx 134 133 241 100 73 0 681
CeGaT Center for Human Genetics Tuebingen 43 31 70 47 9 0 200
Ambry Genetics 26 11 65 54 8 0 164
UniProtKB/Swiss-Prot 0 0 1 0 0 106 107
Center for Bioinformatics, Peking University 94 0 0 0 0 0 94
Eurofins Ntd Llc (ga) 8 4 45 6 8 0 71
Illumina Laboratory Services, Illumina 1 1 46 19 17 0 69
Athena Diagnostics 26 6 17 3 9 0 61
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 5 6 21 15 13 0 60
Channelopathy-Associated Epilepsy Research Center 0 0 0 0 0 58 58
3billion 15 17 21 0 0 0 53
Institute of Human Genetics, University of Leipzig Medical Center 24 13 13 1 2 0 52
Revvity Omics, Revvity 5 9 36 0 0 0 50
Mendelics 26 8 4 4 7 0 49
PreventionGenetics, part of Exact Sciences 1 6 9 27 5 0 48
Génétique des Maladies du Développement, Hospices Civils de Lyon 20 14 2 0 0 0 35
Neuberg Centre For Genomic Medicine, NCGM 5 6 21 0 0 0 32
Breakthrough Genomics, Breakthrough Genomics 0 0 1 20 8 0 29
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 11 13 0 0 3 0 27
Genetic Services Laboratory, University of Chicago 4 3 9 4 4 0 24
Mayo Clinic Laboratories, Mayo Clinic 2 4 6 1 9 0 22
Lifecell International Pvt. Ltd 5 7 7 0 0 0 19
Baylor Genetics 1 4 12 0 0 0 17
Fulgent Genetics, Fulgent Genetics 5 0 10 1 0 0 16
OMIM 16 0 0 0 0 0 16
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 3 3 9 0 0 0 15
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 8 2 4 0 0 0 14
MGZ Medical Genetics Center 2 7 4 0 0 0 13
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 3 5 0 9
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 3 3 3 0 0 0 9
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 9 9
Genome Diagnostics Laboratory, University Medical Center Utrecht 3 0 0 3 3 0 9
New York Genome Center 1 1 7 0 0 0 9
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 2 4 2 0 0 0 8
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 7 1 0 0 0 0 8
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 3 3 1 0 0 0 7
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 0 4 0 0 0 7
Institute of Human Genetics Munich, TUM University Hospital 6 1 0 0 0 0 7
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 1 1 4 0 7
Juno Genomics, Hangzhou Juno Genomics, Inc 0 6 1 0 0 0 7
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 2 1 0 0 0 6
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 5 0 0 0 6
Center of Excellence for Medical Genomics, Chulalongkorn University 4 1 0 0 0 0 5
ClinGen Epilepsy Sodium Channel Variant Curation Expert Panel, Clingen 1 2 1 0 1 0 5
Dasa 5 0 0 0 0 0 5
Department of Neurology, Zibo Changguo Hospital 1 4 0 0 0 0 5
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 4 1 0 0 5
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 2 2 0 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 4 0 0 0 5
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 5 0 0 0 0 5
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 3 0 2 0 0 0 5
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 1 1 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
Diagnostic Laboratory, Strasbourg University Hospital 1 0 3 0 0 0 4
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 3 0 0 0 0 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 2 1 0 0 0 4
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 3 1 0 0 0 0 4
Neurogenetics Laboratory - MEYER, AOU Meyer 3 1 0 0 0 0 4
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 2 0 0 3
Center of Human Genetics, Hôpital Erasme 2 1 0 0 0 0 3
Clinical Genetics Laboratory, Skane University Hospital Lund 0 2 1 0 0 0 3
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 2 0 0 0 3
Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry 1 2 0 0 0 0 3
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 1 1 0 0 0 3
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 2 0 0 3
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 2 0 1 0 3
MVZ Martinsried, Medicover Genetics 1 2 0 0 0 0 3
NIHR Bioresource Rare Diseases, University of Cambridge 2 1 0 0 0 0 3
School of Medicine NGS Core Facility, Fu Jen Catholic University 2 0 1 0 0 0 3
AiLife Diagnostics, AiLife Diagnostics 1 0 1 0 0 0 2
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 1 1 0 0 0 2
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 0 2 0 0 0 2
Cavalleri Lab, Royal College of Surgeons in Ireland 1 1 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
Center of Genomic medicine, Geneva, University Hospital of Geneva 2 0 0 0 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 1 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 1 0 0 0 2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 1 1 0 0 0 2
Department of Developmental Neurology, Medical University of Gdańsk 0 0 0 0 0 2 2
Division of Genetic & Genomic Pathology, Hong Kong Children's Hospital 1 1 0 0 0 0 2
Genome-Nilou Lab 2 0 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 1 0 0 0 2
Imagene.me medical diagnostic laboratory, IMAGENE.ME SA 2 0 0 0 0 0 2
MVZ Medizinische Genetik Mainz 0 1 1 0 0 0 2
Medical and Scientific Branch, Hong Kong Genome Institute 1 1 0 0 0 0 2
Pediatric Department, Xiangya Hospital, Central South University 2 0 0 0 0 0 2
Robert's Program, Boston Children's Hospital 0 1 1 0 0 0 2
Bioinformatics Core, Luxembourg Center for Systems Biomedicine 1 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 1 0 0 0 1
Blueprint Genetics 1 0 0 0 0 0 1
Breda Genetics srl, Breda Genetics srl 1 0 0 0 0 0 1
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 1 0 0 0 0 0 1
Center for Statistical Genetics, Columbia University 1 0 0 0 0 0 1
Centre of Medical Genetics, University Hospital Muenster 0 0 1 0 0 0 1
Cipher Gene Genetics Laboratory, Cipher Gene, Inc 0 1 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 0 0 0 0 1
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 0 1 0 0 0 0 1
Cytogenetics and Genomics Lab, Cyprus Institute Of Neurology and Genetics 0 0 1 0 0 0 1
Department of Clinical Genetics, Medical University of Lodz 0 1 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 0 1
Department of Paediatrics at Addenbrookes, Cambridge University Hospitals NHS Foundation Trust (UK) 0 1 0 0 0 0 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 0 0 0 1
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 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
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 1 0 0 0 0 0 1
Epilepsy and Neurogenetic Laboratory, Kaohsiung Chang Gung Memorial Hospital 0 1 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
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 1 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 1 0 0 0 0 0 1
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 0 1 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Genomics, Clalit Research Institute, Clalit Health Care 0 1 0 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, Uf Genomique Du Developpement, Assistance Publique Hopitaux de Paris Sorbonne Université 1 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 0 0 1 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 1 0 0 0 1
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 0 0 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 1 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 0 0 1
Pediatrics, MediClubGeorgia 1 0 0 0 0 0 1
Research Center for Genetics and Reproductive Health, Viet Nam National University HCMC 1 0 0 0 0 0 1
Research Centre for Medical Genetics, Research Centre for Medical Genetics 0 1 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
Suma Genomics 0 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 1
VIB - Center for Molecular Neurology, University of Antwerp 0 1 0 0 0 0 1
Variantyx, Inc. 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 0 0 0 0 1

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