ClinVar Miner

Variants in gene CDKL5

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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
456 229 406 382 126 31 1367

Condition and significance breakdown #

Total conditions: 27
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Developmental and epileptic encephalopathy, 2; Angelman syndrome-like 183 32 192 262 80 0 749
not provided 129 39 114 74 30 30 400
CDKL5 disorder 102 83 65 32 37 0 316
Developmental and epileptic encephalopathy, 2 164 70 50 8 2 1 282
not specified 0 0 25 58 39 0 114
Inborn genetic diseases 14 4 29 23 4 0 74
Atypical Rett syndrome 40 5 3 0 0 0 47
CDKL5-related disorder 4 2 10 14 4 0 34
Rett syndrome 5 9 0 1 0 0 15
West syndrome 1 5 0 1 0 0 7
History of neurodevelopmental disorder 0 0 0 4 2 0 6
Epileptic encephalopathy 4 1 0 0 0 0 5
See cases 4 1 0 0 0 0 5
Autism 1 1 1 0 0 0 3
Seizure 1 0 1 1 0 0 3
Developmental and epileptic encephalopathy 2 0 0 0 0 0 2
Abnormal cerebral morphology 0 0 1 0 0 0 1
Abnormality of the nervous system 0 1 0 0 0 0 1
Angelman syndrome 1 0 0 0 0 0 1
Developmental and epileptic encephalopathy, 1 0 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 4 1 0 0 0 0 0 1
Developmental delay 0 1 0 0 0 0 1
Epileptic encephalopathy; Developmental delay 0 1 0 0 0 0 1
Focal epilepsy 1 0 0 0 0 0 1
Global developmental delay; Seizure; Stereotypic movement disorder; Delayed speech and language development; Generalized hypotonia; Bruxism; Stereotypical hand wringing; Stereotypical body rocking 1 0 0 0 0 0 1
Infantile spasms 0 0 1 0 0 0 1
Intellectual disability 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 93
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 183 32 192 265 80 0 752
GeneDx 96 25 78 91 37 0 327
Centre for Population Genomics, CPG 101 86 54 22 21 0 284
RettBASE 107 15 10 10 29 30 173
Ambry Genetics 14 4 29 27 6 0 80
ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel 12 8 13 14 19 0 66
CeGaT Center for Human Genetics Tuebingen 16 7 18 16 0 0 57
Genetic Services Laboratory, University of Chicago 23 4 15 3 8 0 53
Eurofins Ntd Llc (ga) 10 1 15 2 9 0 37
PreventionGenetics, part of Exact Sciences 4 1 10 16 5 0 36
Mendelics 16 5 1 2 1 0 25
Institute of Human Genetics, University of Leipzig Medical Center 13 6 2 0 0 0 21
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 11 2 3 0 0 0 16
3billion 5 5 5 1 0 0 16
Breakthrough Genomics, Breakthrough Genomics 1 0 0 6 8 0 15
OMIM 14 0 0 0 0 0 14
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 10 3 1 0 14
Génétique des Maladies du Développement, Hospices Civils de Lyon 8 4 1 1 0 0 14
Neuberg Centre For Genomic Medicine, NCGM 2 3 7 0 0 0 12
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 4 0 3 0 2 0 9
Revvity Omics, Revvity 3 1 5 0 0 0 9
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 1 0 4 3 0 9
Baylor Genetics 1 2 5 0 0 0 8
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 1 2 1 0 0 8
Center for Human Genetics, Inc, Center for Human Genetics, Inc 1 4 1 1 0 0 7
Athena Diagnostics 1 0 1 1 3 0 6
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 6 0 0 0 0 6
Undiagnosed Diseases Network, NIH 3 2 0 0 0 0 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 4 1 0 0 0 5
Fulgent Genetics, Fulgent Genetics 1 0 2 1 0 0 4
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 3 1 0 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 1 2 0 0 0 4
Neurogenetics Laboratory - MEYER, AOU Meyer 4 0 0 0 0 0 4
Juno Genomics, Hangzhou Juno Genomics, Inc 1 1 2 0 0 0 4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 3 0 4
Diagnostic Genetics, Severance Hospital, 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
MGZ Medical Genetics Center 0 1 2 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 0 1 0 0 3
Center of Genomic medicine, Geneva, University Hospital of Geneva 3 0 0 0 0 0 3
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 2 0 0 0 1 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 0 0 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 3 0 0 0 0 0 3
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 3 0 0 0 0 3
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 1 2 0 0 0 0 3
Clinical Genetics Laboratory, Skane University Hospital Lund 2 0 1 0 0 0 3
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 1 0 1 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 2 0 0 0 0 2
ISCA site 1 1 1 0 0 0 0 2
Clinical Genetics and Genomics, Karolinska University Hospital 2 0 0 0 0 0 2
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 2 0 0 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 0 1 0 0 0 2
Diagnostic Laboratory, Strasbourg University Hospital 1 0 1 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 2 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
Suma Genomics 2 0 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 1 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
Bionano Laboratories 0 0 1 0 0 0 1
Blueprint Genetics 0 1 0 0 0 0 1
Illumina Laboratory Services, Illumina 1 0 0 0 0 0 1
ITMI 1 0 0 0 0 0 1
ISCA site 4 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 0 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 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
Daryl Scott Lab, Baylor College of Medicine 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
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 0 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 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
Molecular Genetics Laboratory, Motol Hospital 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
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 1 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
Centre for Addiction & Mental Health, Centre for Addiction & Mental Health 0 1 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 1 0 0 0 0 1
Medical Genetic Diagnosis and Therapy Center, Fujian Medical University 1 0 0 0 0 0 1
Clinical Genetics, Synlab MVZ Humangenetik Freiburg 0 1 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1
Center of Human Genetics, Hôpital Erasme 1 0 0 0 0 0 1
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 1 0 0 0 0 0 1

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