ClinVar Miner

Variants in gene combination CDKL5, RS1

See also:
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
49 25 45 35 23 110 220

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 30 3 23 8 12 110 164
not specified 0 0 7 22 9 0 35
Retinal dystrophy 15 7 2 0 0 0 24
Early infantile epileptic encephalopathy 2; Angelman syndrome-like 1 0 10 4 8 0 23
Juvenile retinoschisis 10 8 0 0 0 0 18
Early infantile epileptic encephalopathy 2 4 0 3 2 1 0 10
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: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Retina International 0 0 0 0 0 108 108
Invitae 15 0 14 12 16 0 57
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
Counsyl 4 8 0 0 0 0 12
CeGaT Praxis fuer Humangenetik Tuebingen 7 1 3 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 3 2 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
PreventionGenetics,PreventionGenetics 0 0 0 2 2 0 4
Athena Diagnostics Inc 0 0 1 0 1 0 2
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
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
Division of Genomic Diagnostics,The 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
ISCA site 1 0 1 0 0 0 0 1
ISCA site 4 1 0 0 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
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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