ClinVar Miner

Variants studied for Developmental and epileptic encephalopathy, 42

Coded as:
Minimum submission review status: Collection method:
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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 total
31 59 96 3 21 202

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CACNA1A 30 55 90 2 20 190
CACNA1A, LOC126862864 1 4 2 0 0 6
CACNA1A, LOC108663985 0 0 0 1 1 2
CACNA1A, LOC126862866 0 0 2 0 0 2
CACNA1A, LOC130063717 0 0 2 0 0 2

Submitter and significance breakdown #

Total submitters: 55
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Institute of Human Genetics, University of Leipzig Medical Center 7 8 14 1 1 31
Genome-Nilou Lab 0 0 0 0 20 20
Neuberg Centre For Genomic Medicine, NCGM 2 0 17 0 0 19
Baylor Genetics 5 1 11 0 0 17
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 10 6 0 0 0 16
New York Genome Center 0 0 13 0 0 13
3billion 3 6 3 0 0 12
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 2 7 0 0 11
MGZ Medical Genetics Center 1 2 4 0 0 7
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 4 1 0 0 6
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 4 0 0 6
Génétique des Maladies du Développement, Hospices Civils de Lyon 3 1 0 1 0 5
Solve-RD Consortium 0 5 0 0 0 5
Centogene AG - the Rare Disease Company 0 1 3 0 0 4
Pediatric Department, Xiangya Hospital, Central South University 2 2 0 0 0 4
OMIM 3 0 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 2 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 2 0 0 3
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 2 0 0 3
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 3 0 0 3
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 1 1 0 0 3
Center of Human Genetics, Hôpital Erasme 2 1 0 0 0 3
Institute of Human Genetics, University of Goettingen 0 0 2 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 1 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 1 0 0 2
Illumina Laboratory Services, Illumina 1 0 1 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 1 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 1 1 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 1 0 0 0 2
University of Washington Department of Laboratory Medicine, University of Washington 0 1 1 0 0 2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 2 0 0 0 2
Cytoplasmic Inheritance Laboratory, Institute of Genetics and Cytology 1 1 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 1 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 0 1 0 1
Blueprint Genetics 0 1 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 1
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 1 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 1 0 0 0 1
Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice-Université Côte d'Azur 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 1 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 1 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 0 1 0 0 0 1
Breda Genetics srl 0 1 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 1 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 1
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 1
Department of Neurology, Zibo Changguo Hospital 0 1 0 0 0 1

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