ClinVar Miner

Variants studied for CDKL5 disorder

Included ClinVar conditions (3):
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 not provided total
198 50 142 61 35 1 468

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CDKL5 191 50 112 49 26 1 413
CDKL5, RS1 6 0 28 12 9 0 52
BEND2, CDKL5, NHS, RAI2, RS1, SCML1, SCML2 1 0 1 0 0 0 2
ADGRG2, BCLAF3, BEND2, CDKL5, EIF1AX, MAP3K15, MAP7D2, NHS, PDHA1, PHKA2, PPEF1, RAI2, RPS6KA3, RS1, SCML1, SCML2, SH3KBP1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 74 13 119 55 34 0 295
RettBASE 75 8 4 0 0 0 87
Genetic Services Laboratory, University of Chicago 21 3 7 0 0 0 31
Mendelics 9 4 0 2 2 0 17
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 11 2 4 0 0 0 17
OMIM 14 0 0 0 0 0 14
Institute of Human Genetics, University of Leipzig Medical Center 7 5 2 0 0 0 14
Génétique des Maladies du Développement, Hospices Civils de Lyon 5 3 0 0 0 0 8
Baylor Genetics 1 1 4 0 0 0 6
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 6 0 0 0 0 6
Fulgent Genetics,Fulgent Genetics 1 0 3 0 0 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 4 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 0 1 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 3 0 0 0 3
Institute of Human Genetics, Klinikum rechts der Isar 1 1 0 0 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 2 0 0 0 0 0 2
Undiagnosed Diseases Network,NIH 2 0 0 0 0 0 2
Center for Human Genetics, Inc,Center for Human Genetics, Inc 0 0 1 0 0 0 1
Blueprint Genetics 0 1 0 0 0 0 1
ITMI 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 1 0 0 0 0 0 1
Genomic Medicine,Universita Cattolica del Sacro Cuore 1 0 0 0 0 0 1

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