ClinVar Miner

Variants studied for Developmental and epileptic encephalopathy, 7

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
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
82 82 37 0 3 67 236

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign not provided total
KCNQ2 82 82 37 3 67 236

Submitter and significance breakdown #

Total submitters: 68
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Submitter pathogenic likely pathogenic uncertain significance benign not provided total
GeneReviews 1 0 0 0 67 68
Institute of Human Genetics, University of Leipzig Medical Center 10 13 0 0 0 23
3billion 7 11 5 0 0 23
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 15 0 3 0 0 18
Neuberg Centre For Genomic Medicine, NCGM 6 3 7 0 0 16
NeuroMeGen, Hospital Clinico Santiago de Compostela 10 5 0 0 0 15
Baylor Genetics 7 2 2 0 0 11
Génétique des Maladies du Développement, Hospices Civils de Lyon 5 4 0 0 0 9
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 7 0 0 8
Center of Excellence for Medical Genomics, Chulalongkorn University 6 1 0 0 0 7
OMIM 6 0 0 0 0 6
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 4 1 0 0 6
New York Genome Center 0 0 5 0 0 5
MGZ Medical Genetics Center 2 2 0 0 0 4
Centogene AG - the Rare Disease Company 2 0 2 0 0 4
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 3 1 0 0 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 1 0 0 0 4
Center for Molecular Medicine, Children’s Hospital of Fudan University 2 2 0 0 0 4
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 4 0 0 0 0 4
Pediatrics, West China Second University Hospital, Sichuan University 1 2 1 0 0 4
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 2 2 0 0 0 4
Genetic Services Laboratory, University of Chicago 1 2 0 0 0 3
Center of Genomic medicine, Geneva, University Hospital of Geneva 3 0 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 3 0 0 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 2 0 0 0 3
Genome-Nilou Lab 0 0 0 3 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 1 0 0 3
Solve-RD Consortium 0 3 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 2 0 0 0 2
Duke University Health System Sequencing Clinic, Duke University Health System 2 0 0 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 1 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 2 0 0 0 2
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 1 1 0 0 0 2
Lifecell International Pvt. Ltd 1 1 0 0 0 2
Pediatric Genetics Clinic, Sheba Medical Center 2 0 0 0 0 2
Department of Medical and Surgical Sciences, Institute of Neurology, University Magna Graecia of Catanzaro 1 1 0 0 0 2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 1 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 1 0 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 1 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 0 1 0 0 0 1
Mendelics 1 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 1 0 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 1 0 0 0 1
Centro Nacional de Genética Medica "Dr. Eduardo E. Castilla", Administración Nacional de Laboratorios e Institutos de Salud 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 1
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 0 1 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 0 0 0 1
Translational Oncology and Experimental Therapeutics Program-IBMCC, Consejo Superior de Investigaciones Científicas 1 0 0 0 0 1
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 1 0 0 0 0 1
Section for Clinical Neurogenetics, University of Tübingen 0 1 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 0 0 0 0 1
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 0 1 0 0 0 1
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 1 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 0 0 0 1
DASA 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 1 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 0 1 0 0 0 1
Department of Neurology, Zibo Changguo Hospital 1 0 0 0 0 1

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