ClinVar Miner

Variants studied for Developmental and epileptic encephalopathy 94

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
216 108 794 833 84 6 1996

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CHD2 209 108 776 803 83 6 1940
CHD2, LOC126862230 6 0 17 30 1 0 54
CHRNA4 0 0 1 0 0 0 1
SLC6A1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 83
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 184 40 732 820 78 0 1854
Revvity Omics, Revvity 2 0 26 2 0 0 30
Institute of Human Genetics, University of Leipzig Medical Center 6 5 8 4 0 0 23
Fulgent Genetics, Fulgent Genetics 2 0 8 4 0 0 14
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 4 6 0 0 0 12
3billion 3 7 1 0 0 0 11
Neuberg Centre For Genomic Medicine, NCGM 0 2 9 0 0 0 11
Baylor Genetics 1 2 7 0 0 0 10
Genome-Nilou Lab 0 0 0 0 10 0 10
OMIM 10 0 0 0 0 0 10
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 2 5 0 9
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 5 2 0 0 0 8
Mendelics 4 2 2 0 0 0 8
Juno Genomics, Hangzhou Juno Genomics, Inc 2 5 0 0 0 0 7
New York Genome Center 0 3 4 0 0 0 7
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 4 1 0 0 5
Variantyx, Inc. 3 2 0 0 0 0 5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 3 0 0 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 3 0 0 0 4
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 2 0 0 0 0 4
Cavalleri Lab, Royal College of Surgeons in Ireland 2 1 0 0 0 0 3
Centre for Medical Genetics, Mumbai 0 0 0 3 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 2 1 0 0 0 0 3
MVZ Martinsried, Medicover Genetics 1 1 1 0 0 0 3
MVZ Medizinische Genetik Mainz 0 1 2 0 0 0 3
Pediatrics, MediClubGeorgia 0 3 0 0 0 0 3
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 1 2 0 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 2 0 0 0 0 3
Blueprint Genetics 0 2 0 0 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 2 0 0 0 0 0 2
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 1 0 0 0 0 2
Clinical Genetics Laboratory, Skane University Hospital Lund 2 0 0 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 1 0 0 0 2
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 0 2 0 0 0 0 2
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 1 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 0 2
Institute of Human Genetics Munich, TUM University Hospital 1 1 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 1 1 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 2 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 0 2
Lifecell International Pvt. Ltd 1 1 0 0 0 0 2
MGZ Medical Genetics Center 1 1 0 0 0 0 2
Next Generation Genetic Polyclinic 0 2 0 0 0 0 2
Solve-RD Consortium 0 2 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 0 1
Center of Human Genetics, Hôpital Erasme 0 1 0 0 0 0 1
Dasa 1 0 0 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 1
Department of Developmental Neurology, Medical University of Gdańsk 0 0 0 0 0 1 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 0 1
Diagnostics Centre, Carl Von Ossietzky University Oldenburg 0 0 1 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Eurofins-Biomnis 1 0 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
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Genomics, Clalit Research Institute, Clalit Health Care 0 1 0 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 1 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Laboratoire Génétique Moléculaire, CHRU TOURS 1 0 0 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 0 1 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 1 0 0 0 0 0 1
Medical and Scientific Branch, Hong Kong Genome Institute 0 1 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 1 0 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 1 0 0 0 0 1
Molecular Genetics Laboratory, Motol Hospital 0 1 0 0 0 0 1
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 1 0 0 0 0 0 1
OLLIN Analises Genomicas, OLLIN 0 0 1 0 0 0 1
Pediatric Department, Xiangya Hospital, Central South University 1 0 0 0 0 0 1
Pediatrics, Sichuan Provincial Hospital For Women And Children 1 0 0 0 0 0 1
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 0 0 1 0 0 0 1
Watson Genetic Lab 0 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 0 0 0 0 1

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