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
257 111 528 384 89 27 1186

Condition and significance breakdown #

Total conditions: 38
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis 191 28 294 265 41 0 819
not provided 59 28 110 59 37 26 303
Leber congenital amaurosis 29 9 119 14 18 0 189
Joubert syndrome 5 48 10 108 7 15 0 186
Meckel syndrome, type 4 13 17 112 8 5 0 152
Leber congenital amaurosis 10 14 9 113 7 6 0 147
Bardet-Biedl syndrome 14 3 1 106 6 16 0 131
Senior-Loken syndrome 6 5 0 96 12 18 0 131
not specified 2 1 20 94 38 0 127
Retinal dystrophy 14 13 14 0 0 0 40
Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 9 2 10 0 0 0 21
Joubert syndrome 1 7 3 2 1 2 0 15
Meckel-Gruber syndrome 4 0 8 0 3 0 15
Intellectual disability 2 0 2 7 2 0 13
Retinitis pigmentosa 10 0 3 0 0 0 13
Joubert syndrome 2 0 7 0 3 0 12
none provided 0 0 1 1 9 0 11
Bardet-Biedl syndrome 0 0 7 0 3 0 10
Renal dysplasia and retinal aplasia 0 0 7 0 3 0 10
CEP290-Related Disorders 2 4 3 0 0 0 8
Inborn genetic diseases 2 0 2 1 0 0 5
Meckel syndrome type 6 3 0 0 0 0 0 3
Nephronophthisis 1 2 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
Encephalocele; Polycystic kidney disease; Severe hydrocephalus 2 0 0 0 0 0 2
Global developmental delay; Blindness 2 0 0 0 0 0 2
Joubert syndrome; Polycystic kidney disease; 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
Microcephaly 0 0 1 0 0 0 1
Nyctalopia 1 0 0 0 0 0 1
Occipital encephalocele 1 0 0 0 0 0 1
Retinopathy 0 0 1 0 0 0 1
Senior-Loken syndrome 6; Joubert syndrome 5 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 68
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 191 28 294 283 43 0 839
Natera, Inc. 19 4 113 14 16 0 166
GeneDx 25 15 22 58 42 0 162
Illumina Clinical Services Laboratory,Illumina 1 2 122 23 21 0 140
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 23 3 64 8 14 0 112
PreventionGenetics, PreventionGenetics 0 0 1 35 29 0 65
Genetic Services Laboratory, University of Chicago 7 0 17 25 3 0 52
CeGaT Praxis fuer Humangenetik Tuebingen 19 8 17 5 0 0 49
Blueprint Genetics 13 9 12 0 0 0 34
UW Hindbrain Malformation Research Program,University of Washington 30 0 0 0 0 0 30
Retina International 0 0 0 0 0 23 23
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 3 1 5 3 9 0 21
Centre for Mendelian Genomics,University Medical Centre Ljubljana 14 2 5 0 0 0 21
Fulgent Genetics,Fulgent Genetics 9 1 10 0 0 0 20
Mendelics 7 3 2 1 2 0 15
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 9 6 0 0 15
OMIM 13 0 0 0 0 0 13
Baylor Genetics 4 3 6 0 0 0 13
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 12 0 0 0 0 12
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 2 7 2 0 11
Ocular Genomics Institute, Massachusetts Eye and Ear 6 5 0 0 0 0 11
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 3 4 2 0 0 0 9
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 3 3 2 0 0 0 8
Molecular Genetics Laboratory,Institute for Ophthalmic Research 8 0 0 0 0 0 8
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 6 0 6
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 5 1 0 0 0 0 6
Gharavi Laboratory,Columbia University 0 0 6 0 0 0 6
Ambry Genetics 2 0 2 1 0 0 5
Knight Diagnostic Laboratories, Oregon Health and Sciences University 2 3 0 0 0 0 5
Department of Pathology and Laboratory Medicine,Sinai Health System 1 0 4 0 0 0 5
Broad Institute Rare Disease Group, Broad Institute 0 4 1 0 0 0 5
Institute of Vision Research, Yonsei University College of Medicine 3 2 0 0 0 0 5
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
Institute of Human Genetics, University of Leipzig Medical Center 4 0 0 0 0 0 4
Kariminejad - Najmabadi Pathology & Genetics Center 3 1 0 0 0 0 4
Sharon lab,Hadassah-Hebrew University Medical Center 4 0 0 0 0 0 4
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 3 3 0 0 0 0 4
Athena Diagnostics Inc 0 0 0 1 2 0 3
Integrated Genetics/Laboratory Corporation of America 2 1 0 0 0 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
Kasturba Medical College, Manipal University 1 2 0 0 0 0 3
NIHR Bioresource Rare Diseases, University of Cambridge 1 1 1 0 0 0 3
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 2 0 0 0 2
Institute of Medical Molecular Genetics, University of Zurich 0 2 0 0 0 0 2
GeneReviews 2 0 0 0 0 0 2
Institute of Human Genetics, Klinikum rechts der Isar 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
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 1 0 0 0 0 2
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 2 0 0 0 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 1 0 0 0 0 2
Center for Reproductive Medicine, Peking University Third Hospital 2 0 0 0 0 0 2
Molecular Biology Laboratory, Fundació Puigvert 2 0 0 0 0 0 2
Sydney Genome Diagnostics,Children's Hospital Westmead 0 2 0 0 0 0 2
Lineagen, Inc 0 0 1 0 0 0 1
Mayo Clinic 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, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 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 Fairview: University of Minnesota 1 0 0 0 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 1 0 0 0 0 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 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.