ClinVar Miner

Variants in gene CEP290

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
101 52 206 105 52 27 451

Condition and significance breakdown #

Total conditions: 28
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 40 22 102 10 9 26 197
not specified 2 0 20 93 38 0 124
Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis 26 6 38 19 26 0 115
Leber congenital amaurosis 4 3 68 7 4 0 86
Meckel-Gruber syndrome 4 0 69 7 4 0 84
Joubert syndrome 2 0 68 7 4 0 81
Bardet-Biedl syndrome 0 0 68 7 4 0 79
Renal dysplasia and retinal aplasia 0 0 68 7 4 0 79
Joubert syndrome 5 40 5 1 0 1 0 47
Meckel syndrome type 4 28 14 0 0 0 0 40
Senior-Loken syndrome 6 20 2 0 0 0 0 22
Leber congenital amaurosis 10 20 0 1 0 0 0 21
Leber congenital amaurosis 10; Meckel syndrome type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 9 1 10 0 0 0 20
Retinal dystrophy 1 4 2 0 0 0 7
Retinitis pigmentosa 4 0 3 0 0 0 7
CEP290-Related Disorders 1 2 3 0 0 0 6
Bardet-Biedl syndrome 14 3 0 0 0 0 0 3
Blindness 2 0 0 0 0 0 2
Cystic renal dysplasia; Occipital encephalocele 1 1 0 0 0 0 2
Global developmental delay; Blindness 2 0 0 0 0 0 2
Joubert syndrome; Polycystic kidney dysplasia; Abnormality of the kidney; Cerebellar vermis hypoplasia; Cerebellar cyst; Hyperechogenic kidneys 2 0 0 0 0 0 2
Nystagmus; Molar tooth sign on MRI; Central hypotonia 2 0 0 0 0 0 2
Bardet-Biedl syndrome; Leber congenital amaurosis 10; Meckel syndrome type 4; Senior-Loken syndrome 6; Joubert syndrome 5 0 1 0 0 0 0 1
CEP290-related ciliopathies 0 0 0 0 0 1 1
Cone-rod dystrophy 0 1 0 0 0 0 1
Joubert Syndrome and Related Disorders 1 0 0 0 0 0 1
Nephronophthisis 1 0 0 0 0 0 1
Retinopathy 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 41
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 28 6 38 19 26 0 117
GeneDx 21 11 22 43 15 0 112
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 23 3 64 8 14 0 112
Illumina Clinical Services Laboratory,Illumina 1 2 70 7 4 0 84
PreventionGenetics 0 0 0 36 29 0 65
Genetic Services Laboratory, University of Chicago 7 0 18 24 3 0 52
UW Hindbrain Malformation Research Program,University of Washington 30 0 0 0 0 0 30
Retina International 0 0 0 0 0 23 23
Fulgent Genetics 9 1 10 0 0 0 20
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 9 6 0 0 15
CeGaT Praxis fuer Humangenetik Tuebingen 0 6 9 0 0 0 15
OMIM 13 0 0 0 0 0 13
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 12 0 0 0 0 12
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 3 3 2 0 0 0 8
Centre for Mendelian Genomics,University Medical Centre Ljubljana 6 1 1 0 0 0 8
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 3 1 1 1 1 0 7
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 0 4 2 0 0 0 6
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 6 0 6
Gharavi Laboratory,Columbia University 0 0 6 0 0 0 6
Molecular Diagnostics Laboratory,Seoul National University Hospital 4 0 0 0 0 0 4
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 2 2 0 0 0 0 4
Knight Diagnostic Laboratories,Oregon Health and Sciences University 1 3 0 0 0 0 4
Athena Diagnostics Inc 0 0 0 1 2 0 3
NEI Ophthalmic Genomics Laboratory,National Institutes of Health 0 0 0 0 0 3 3
Genomic Research Center,Shahid Beheshti University of Medical Sciences 2 0 1 0 0 0 3
Human Genetics - Radboudumc,Radboudumc 3 0 0 0 0 0 3
NIHR Bioresource Rare Diseases,University of Cambridge 1 1 1 0 0 0 3
Broad Institute Rare Disease Group,Broad Institute 0 3 0 0 0 0 3
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 2 0 0 0 2
GeneReviews 2 0 0 0 0 0 2
Department of Ophthalmology and Visual Sciences Kyoto University 0 0 0 2 0 0 2
Rui Chen Lab,Baylor College of Medicine 2 0 0 0 0 0 2
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 0 1
Richard Lifton Laboratory, Yale University School of Medicine 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 0 0 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 1 0 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.