ClinVar Miner

Variants studied for CDKL5 disorder

Included ClinVar conditions (5):
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
305 99 273 300 110 2 1015

Gene and significance breakdown #

Total genes and gene combinations: 10
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CDKL5 289 98 214 251 84 1 876
CDKL5, RS1 7 1 55 49 26 1 126
CDKL5, LOC130067999 4 0 0 0 0 0 4
BEND2, CDKL5, NHS, RAI2, RS1, SCML1, SCML2 1 0 2 0 0 0 3
ADGRG2, BCLAF3, BEND2, CDKL5, EIF1AX, MAP3K15, MAP7D2, NHS, PDHA1, PHKA2, PPEF1, RAI2, RPS6KA3, RS1, SCML1, SCML2, SH3KBP1 0 0 1 0 0 0 1
ARFGAP1, BIRC7, CHRNA4, COL20A1, EEF1A2, FNDC11, GMEB2, HELZ2, KCNQ2, NKAIN4, PPDPF, PTK6, RTEL1, SRMS, STMN3, YTHDF1 1 0 0 0 0 0 1
ATP6V1A 0 0 1 0 0 0 1
BEND2, CDKL5, NHS, RAI2, SCML1, SCML2 1 0 0 0 0 0 1
CDKL5, LOC121853052, LOC130067999 1 0 0 0 0 0 1
SNAP25 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 54
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 169 34 230 281 97 0 811
RettBASE 75 8 4 0 0 0 87
ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel 9 9 8 22 23 0 71
Genetic Services Laboratory, University of Chicago 21 3 7 0 0 0 31
Mendelics 17 5 0 2 2 0 26
Institute of Human Genetics, University of Leipzig Medical Center 12 6 2 0 0 0 20
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
Revvity Omics, Revvity 3 1 6 0 0 0 10
Baylor Genetics 1 2 6 0 0 0 9
Génétique des Maladies du Développement, Hospices Civils de Lyon 6 3 0 0 0 0 9
3billion 1 4 3 0 0 0 8
Neuberg Centre For Genomic Medicine, NCGM 0 1 7 0 0 0 8
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 6 0 0 0 0 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 1 0 1 0 0 5
Fulgent Genetics, Fulgent Genetics 1 0 3 1 0 0 5
MGZ Medical Genetics Center 0 1 3 0 0 0 4
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 3 1 0 0 0 0 4
Undiagnosed Diseases Network, NIH 3 1 0 0 0 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 4 0 0 4
Department of Laboratory Medicine, Yonsei University College of Medicine 1 3 0 0 0 0 4
Pediatric Department, Xiangya Hospital, Central South University 4 0 0 0 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 4 0 0 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
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 3 0 0 0 0 0 3
Center of Genomic medicine, Geneva, University Hospital of Geneva 2 0 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 1 0 0 0 0 2
New York Genome Center 0 2 0 0 0 0 2
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 0 1 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 0 0 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 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
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 1 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
Genomic Medicine, Universita Cattolica del Sacro Cuore 1 0 0 0 0 0 1
Pediatrics, MediClubGeorgia 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Suma Genomics 1 0 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
Medical Genetic Diagnosis and Therapy Center, Fujian Medical University 1 0 0 0 0 0 1

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