ClinVar Miner

Variants in gene combination CDKL5, RS1

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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
65 43 79 51 24 110 283

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 50 13 42 19 13 110 207
Early infantile epileptic encephalopathy 2; Angelman syndrome-like 2 0 24 10 8 0 44
not specified 0 0 6 22 9 0 35
Juvenile retinoschisis 13 16 2 3 2 0 34
Retinal dystrophy 15 7 2 0 0 0 24
Early infantile epileptic encephalopathy 2 4 0 5 2 1 0 12
History of neurodevelopmental disorder 0 0 1 5 2 0 8
Retinoschisis 2 6 0 0 0 0 8
See cases 2 1 0 0 0 0 3
Atypical Rett syndrome 0 0 2 0 0 0 2
Epileptic encephalopathy 0 0 1 0 0 0 1
Juvenile retinoschisis; Macular schisis; Peripheral schisis 0 0 1 0 0 0 1
Nicolaides-Baraitser syndrome 0 1 0 0 0 0 1
West syndrome 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 41
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 41 9 44 28 17 0 139
Retina International 0 0 0 0 0 108 108
GeneDx 19 2 7 18 6 0 52
Blueprint Genetics 14 7 2 0 0 0 23
RettBASE 4 0 4 3 6 2 19
CeGaT Praxis fuer Humangenetik Tuebingen 7 2 3 0 0 0 12
Counsyl 3 8 0 0 0 0 11
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 5 1 4 0 10
OMIM 9 0 0 0 0 0 9
Genetic Services Laboratory, University of Chicago 0 0 2 3 3 0 8
Ambry Genetics 0 0 1 5 2 0 8
Sharon lab,Hadassah-Hebrew University Medical Center 2 6 0 0 0 0 8
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation 0 0 7 0 0 0 7
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 7 0 0 0 0 0 7
Natera, Inc. 0 0 1 3 2 0 6
PreventionGenetics, PreventionGenetics 0 0 0 2 2 0 4
Institute of Medical Molecular Genetics, University of Zurich 0 4 0 0 0 0 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 2 2 0 0 0 4
Athena Diagnostics Inc 0 0 2 0 1 0 3
Molecular Genetics Laboratory,Institute for Ophthalmic Research 3 0 0 0 0 0 3
SIB Swiss Institute of Bioinformatics 0 2 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 2 0 0 2
Ocular Genomics Institute, Massachusetts Eye and Ear 0 2 0 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
Center for Human Genetics, Inc,Center for Human Genetics, Inc 0 0 0 0 1 0 1
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 0 0 1 0 1
Mendelics 0 0 0 0 1 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 1 0 0 0 0 0 1
ISCA site 1 0 1 0 0 0 0 1
ISCA site 4 1 0 0 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 0 1 0 0 0 1
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 1 0 0 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 0 1 0 1
Neurogenetics Laboratory - MEYER,AOU Meyer 0 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 1 0 0 0 0 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 0 1 0 0 0 1
Myriad Women's Health, Inc. 1 0 0 0 0 0 1

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