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 12 16 6 6 47

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 12 13 3 6 40
CYFIP2, NIPAL4-DT 0 0 3 3 0 6
CYFIP2, LOC126807569, NIPAL4-DT 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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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
SIB Swiss Institute of Bioinformatics 0 3 0 0 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
3billion 1 1 0 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
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

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