ClinVar Miner

Variants studied for CDKL5 disorder

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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
142 31 51 14 7 238

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
CDKL5 136 31 45 10 4 219
CDKL5, RS1 5 0 6 4 3 18
BEND2, CDKL5, NHS, RAI2, RS1, SCML1, SCML2 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
RettBASE 75 8 4 0 0 87
Invitae 27 3 35 7 5 77
Genetic Services Laboratory, University of Chicago 21 3 7 0 0 31
Mendelics 9 4 0 2 2 17
OMIM 14 0 0 0 0 14
Génétique des Maladies du Développement, Hospices Civils de Lyon 4 3 0 0 0 7
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
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 0 0 1 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
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 1 0 0 0 0 1

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