ClinVar Miner

Variants studied for Early infantile epileptic encephalopathy 2

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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
135 31 21 7 2 188

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
CDKL5 131 31 18 5 1 178
CDKL5, RS1 4 0 3 2 1 10

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
RettBASE 75 8 4 0 0 87
Genetic Services Laboratory, University of Chicago 21 3 7 0 0 31
Mendelics 9 4 0 2 2 17
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 11 2 4 0 0 17
OMIM 14 0 0 0 0 14
Génétique des Maladies du Développement, Hospices Civils de Lyon 5 3 0 0 0 8
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 6 0 0 0 6
Fulgent Genetics,Fulgent Genetics 1 0 3 0 0 4
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 4 0 4
Baylor Genetics 1 0 2 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 0 1 0 3
Human Genetics Institute Leipzig, Universitätsklinikum Leipzig 3 0 0 0 0 3
Institute of Human Genetics,Klinikum rechts der Isar 1 1 0 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 2 0 0 0 0 2
Center for Human Genetics, Inc,Center for Human Genetics, Inc 0 0 1 0 0 1
Blueprint Genetics 0 1 0 0 0 1
ITMI 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 1
Undiagnosed Diseases Network,NIH 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 1 0 0 0 0 1

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