ClinVar Miner

Variants studied for Developmental and epileptic encephalopathy, 14

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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 total
17 22 101 177 71 381

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
KCNT1 17 22 100 177 71 380
CELF2 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Genome-Nilou Lab 0 0 63 172 71 306
Mendelics 4 1 2 3 3 13
Neuberg Centre For Genomic Medicine, NCGM 1 3 9 0 0 13
Institute of Human Genetics, University of Leipzig Medical Center 6 1 3 0 0 10
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 1 3 0 0 8
Génétique des Maladies du Développement, Hospices Civils de Lyon 4 3 1 0 0 8
New York Genome Center 1 0 7 0 0 8
3billion 3 2 2 1 0 8
OMIM 6 0 0 0 0 6
Baylor Genetics 4 1 1 0 0 6
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 1 4 0 0 6
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 3 0 0 0 4
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 1 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 2 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 0 2 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 0 0 0 2
Laboratory of Medical Genetics, University of Torino 0 1 1 0 0 2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 1 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 1
Laboratory of Human Genetics, Universidade de São Paulo 0 0 1 0 0 1
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 1 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 1 0 0 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 1 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 1
Solve-RD Consortium 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 1
Department of Neurology, Zibo Changguo Hospital 1 0 0 0 0 1

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