ClinVar Miner

Variants studied for Early infantile epileptic encephalopathy 2

Coded as:
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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
110 22 17 5 0 148

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 total
CDKL5 106 22 15 3 140
CDKL5, RS1 4 0 2 2 8

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign total
RettBASE 75 8 4 0 87
Genetic Services Laboratory, University of Chicago 21 3 7 0 31
OMIM 14 0 0 0 14
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 6 0 0 6
Fulgent Genetics,Fulgent Genetics 1 0 3 0 4
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 4 4
Baylor Genetics 1 0 2 0 3
Genomic Research Center,Shahid Beheshti University of Medical Sciences 2 0 0 1 3
Mendelics 2 0 0 0 2
Institute of Human Genetics,Klinikum rechts der Isar 1 1 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 2 0 0 0 2
Center for Human Genetics, Inc 0 0 1 0 1
ITMI 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 1
Undiagnosed Diseases Network,NIH 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 1 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 0 0 1
Laboratoire de Cytogenetique,Hospices Civils de Lyon 0 1 0 0 1

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