ClinVar Miner

Variants studied for Developmental and epileptic encephalopathy, 65

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
10 13 23 7 6 55

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CYFIP2 9 13 18 4 6 46
CYFIP2, NIPAL4-DT 0 0 5 3 0 8
CYFIP2, LOC126807569, NIPAL4-DT 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
OMIM 10 0 0 0 0 10
Revvity Omics, Revvity 0 0 7 0 0 7
Baylor Genetics 0 0 6 0 0 6
Fulgent Genetics, Fulgent Genetics 0 0 1 5 0 6
Genome-Nilou Lab 0 0 0 0 6 6
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 3 1 0 0 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 3 0 0 3
SIB Swiss Institute of Bioinformatics 0 3 0 0 0 3
3billion, Medical Genetics 1 1 0 1 0 3
Mendelics 1 1 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 0 1 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 1 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 1
Center for Statistical Genetics, Columbia University 0 1 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 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
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 1
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 0 1 0 0 0 1

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