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
29 13 31 27 11 110 188

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 18 3 16 0 3 110 136
not specified 0 0 7 22 9 0 35
Juvenile retinoschisis 9 8 0 0 0 0 17
Early infantile epileptic encephalopathy 2; Angelman syndrome-like 0 0 4 3 6 0 13
Early infantile epileptic encephalopathy 2 4 0 2 2 0 0 8
History of neurodevelopmental disorder 0 0 1 5 2 0 8
See cases 2 1 0 0 0 0 3
Atypical Rett syndrome 0 0 2 0 0 0 2
Autism spectrum disorder 0 1 0 0 0 0 1
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
Retinal dystrophy 1 0 0 0 0 0 1
West syndrome 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 26
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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
GeneDx 19 2 7 18 5 0 51
RettBASE 4 0 4 3 6 2 19
Invitae 0 0 4 3 6 0 13
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 3 2 3 0 8
Ambry Genetics 0 0 1 5 2 0 8
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation 0 0 7 0 0 0 7
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 0 0 0 0 1 0 1
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 0 0 1 0 1
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
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 0 0 0 0 1
Neurogenetics Laboratory - MEYER,AOU Meyer 0 0 1 0 0 0 1
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 1
Laboratoire de Cytogenetique,Hospices Civils de Lyon 0 1 0 0 0 0 1
Liping Wei Laboratory,Peking University 0 1 0 0 0 0 1

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