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
128 25 37 16 22 218

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 123 25 31 11 16 198
CDKL5, RS1 4 0 6 5 6 19
BEND2, CDKL5, NHS, RAI2, RS1, SCML1, SCML2 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
RettBASE 75 8 4 0 0 87
Invitae 21 2 21 11 22 77
Genetic Services Laboratory, University of Chicago 21 3 7 0 0 31
OMIM 14 0 0 0 0 14
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 6 0 0 0 6
Fulgent Genetics 1 0 3 0 0 4
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 4 0 4
Baylor Miraca Genetics Laboratories, 1 0 2 0 0 3
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 2 1 0 0 0 3
Genomic Research Center,Shahid Beheshti University of Medical Sciences 2 0 0 1 0 3
Mendelics 2 0 0 0 0 2
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 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
Laboratoire de Cytogenetique,Hospices Civils de Lyon 0 1 0 0 0 1

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