ClinVar Miner

Variants in gene CEP290

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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
148 82 311 204 89 27 713

Condition and significance breakdown #

Total conditions: 32
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis 72 14 101 77 41 0 305
not provided 56 27 109 56 38 26 297
Joubert syndrome 5 35 6 103 7 15 0 165
Meckel syndrome, type 4 9 15 112 8 5 0 148
Leber congenital amaurosis 10 10 2 113 7 6 0 138
Bardet-Biedl syndrome 14 3 0 103 6 16 0 128
Senior-Loken syndrome 6 3 0 95 12 18 0 128
not specified 2 1 21 95 38 0 127
Retinal dystrophy 14 13 14 0 0 0 40
Leber congenital amaurosis 8 3 7 0 3 0 21
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
Joubert syndrome 2 0 7 0 3 0 12
Bardet-Biedl syndrome 0 0 7 0 3 0 10
Renal dysplasia and retinal aplasia 0 0 7 0 3 0 10
Retinitis pigmentosa 4 0 3 0 0 0 7
CEP290-Related Disorders 1 3 3 0 0 0 6
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
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: 51
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 74 14 101 108 43 0 340
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 18 24 3 0 52
CeGaT Praxis fuer Humangenetik Tuebingen 19 8 17 0 0 0 44
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
Fulgent Genetics,Fulgent Genetics 9 1 10 0 0 0 20
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 3 1 4 3 8 0 19
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
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 12 0 0 0 0 12
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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 6 1 1 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
Gharavi Laboratory,Columbia University 0 0 6 0 0 0 6
Broad Institute Rare Disease Group,Broad Institute 0 4 1 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
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 3 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
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
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
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
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
Lineagen, Inc 0 0 1 0 0 0 1
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, 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
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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health: 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

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