ClinVar Miner

Variants in gene CEP290

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Gene type:

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
645 539 1648 1801 162 74 4298

Condition and significance breakdown #

Total conditions: 76
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis 549 79 873 1569 89 0 3159
Leber congenital amaurosis 119 154 429 33 22 0 753
Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 78 123 376 55 0 1 633
not provided 109 44 254 151 88 25 610
CEP290-related disorder 58 36 303 184 2 1 581
Bardet-Biedl syndrome 14 133 220 117 6 22 0 494
Inborn genetic diseases 9 1 284 25 0 0 319
Joubert syndrome 5 59 18 120 8 21 0 220
not specified 2 1 71 93 46 0 187
Meckel syndrome, type 4 38 21 115 10 11 0 186
Retinal dystrophy 50 19 95 12 8 0 182
Leber congenital amaurosis 10 38 13 118 7 6 1 177
Senior-Loken syndrome 6 5 0 101 12 24 0 139
CEP290-related ciliopathy 21 2 13 0 0 0 36
Retinitis pigmentosa 12 2 10 0 0 0 24
Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5 1 2 18 0 0 0 21
Kidney disorder 1 0 8 4 3 0 16
Joubert syndrome 1 6 3 2 1 2 0 14
Intellectual disability 2 0 2 7 2 0 13
Autosomal recessive CEP290-related disorders 8 2 0 0 0 0 10
Malignant tumor of esophagus 0 0 0 0 0 10 10
Ovarian serous cystadenocarcinoma 0 0 0 0 0 7 7
Thymoma 0 0 0 0 0 7 7
Cervical cancer 0 0 0 0 0 6 6
Familial cancer of breast 0 0 0 0 0 6 6
Gastric cancer 0 0 0 0 0 6 6
Retinal disorder 4 1 1 0 0 0 6
Uterine corpus endometrial carcinoma 0 0 0 0 0 6 6
Lung cancer 0 0 0 0 0 5 5
Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 3 0 2 0 0 0 5
Meckel-Gruber syndrome 4 0 1 0 0 0 5
Sarcoma 0 0 0 0 0 5 5
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 5 5
Hepatocellular carcinoma 0 0 0 0 0 4 4
Optic atrophy 0 0 4 0 0 0 4
See cases 3 1 0 0 0 0 4
Senior-Loken syndrome 6; Joubert syndrome 5 2 2 0 0 0 0 4
Clear cell carcinoma of kidney 0 0 0 0 0 3 3
Focal segmental glomerulosclerosis 0 3 0 0 0 0 3
Joubert syndrome 5; Bardet-Biedl syndrome 14 1 0 2 0 0 0 3
Meckel syndrome, type 3 3 0 0 0 0 0 3
Meckel syndrome, type 6 3 0 0 0 0 0 3
Nephronophthisis 0 2 0 0 0 1 3
Rod-cone dystrophy 0 3 0 0 0 0 3
Abnormality of prenatal development or birth 2 0 0 0 0 0 2
Abnormality of the nervous system 2 0 0 0 0 0 2
Acute myeloid leukemia 0 0 0 0 0 2 2
Blindness 2 0 0 0 0 0 2
Cholangiocarcinoma 0 0 0 0 0 2 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
Genetic developmental and epileptic encephalopathy 0 0 2 0 0 0 2
Global developmental delay; Blindness 2 0 0 0 0 0 2
Joubert syndrome 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
Stuve-Wiedemann syndrome 2 0 0 2 0 0 0 2
Uterine carcinosarcoma 0 0 0 0 0 2 2
Atypical hemolytic-uremic syndrome 0 0 1 0 0 0 1
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
CEP20-related disorder 1 0 0 0 0 0 1
CEP290-related ciliopathies 0 0 0 0 0 1 1
COG7 congenital disorder of glycosylation 1 0 0 0 0 0 1
Cone-rod dystrophy 0 1 0 0 0 0 1
Joubert syndrome and related disorders 1 0 0 0 0 0 1
Leber congenital amaurosis 10; Joubert syndrome 5; Bardet-Biedl syndrome 14 0 0 0 0 0 1 1
Leber congenital amaurosis 10; Meckel syndrome, type 4; Joubert syndrome 5; Renal dysplasia and retinal aplasia 0 0 0 0 0 1 1
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 1 1
Malignant tumor of urinary bladder 0 0 0 0 0 1 1
Meckel syndrome, type 4; Joubert syndrome 5 1 0 0 0 0 0 1
Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5 0 0 1 0 0 0 1
Microcephaly 0 0 1 0 0 0 1
Night blindness 1 0 0 0 0 0 1
Occipital encephalocele 1 0 0 0 0 0 1
Senior-Loken syndrome 1 1 0 0 0 0 0 1
Spastic ataxia 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 142
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 549 79 873 1571 89 0 3161
Natera, Inc. 111 149 429 33 22 0 744
Fulgent Genetics, Fulgent Genetics 76 116 376 55 0 0 623
PreventionGenetics, part of Exact Sciences 47 22 301 215 30 0 615
GeneDx 62 18 146 123 89 0 438
Baylor Genetics 132 217 7 0 0 0 355
Ambry Genetics 9 1 284 25 0 0 319
Illumina Laboratory Services, Illumina 1 2 113 23 18 0 128
CeGaT Center for Human Genetics Tuebingen 31 8 29 48 4 0 120
Eurofins Ntd Llc (ga) 23 3 64 8 14 0 112
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 31 18 42 11 0 0 102
Dept Of Ophthalmology, Nagoya University 5 4 52 12 8 0 81
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg 39 1 36 0 1 0 77
Genetic Services Laboratory, University of Chicago 6 3 29 31 5 0 74
Breakthrough Genomics, Breakthrough Genomics 2 2 5 14 26 0 49
Revvity Omics, Revvity 21 10 14 0 0 0 45
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 43 43
Blueprint Genetics 13 9 12 0 0 0 34
Mayo Clinic Laboratories, Mayo Clinic 1 0 10 5 17 0 33
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 8 1 5 9 7 0 30
UW Hindbrain Malformation Research Program, University of Washington 29 0 0 0 0 0 29
3billion 20 4 1 0 0 0 25
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 13 1 1 0 10 0 25
Genome-Nilou Lab 2 1 13 2 6 0 24
New York Genome Center 1 1 22 0 0 0 24
Department of Pathology and Laboratory Medicine, Sinai Health System 5 3 14 0 0 0 22
Genome Diagnostics Laboratory, University Medical Center Utrecht 5 0 0 7 10 0 22
Retina International 0 0 0 0 0 22 22
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
Clinical Genetics, Academic Medical Center 5 0 2 5 8 0 20
Genome Diagnostics Laboratory, The Hospital for Sick Children 1 0 9 4 3 0 17
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 9 6 0 0 15
Mendelics 7 3 2 1 2 0 15
Myriad Genetics, Inc. 15 0 0 0 0 0 15
OMIM 14 0 0 0 0 0 14
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 8 3 1 0 0 0 12
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 12 0 0 0 0 12
Neuberg Centre For Genomic Medicine, NCGM 6 2 4 0 0 0 12
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 9 0 3 0 0 0 12
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 2 7 2 0 11
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 8 1 2 0 0 0 11
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 2 8 1 0 11
Juno Genomics, Hangzhou Juno Genomics, Inc 8 2 0 0 0 0 10
Ocular Genomics Institute, Massachusetts Eye and Ear 6 4 0 0 0 0 10
Variantyx, Inc. 8 2 0 0 0 0 10
DBGen Ocular Genomics 4 0 5 0 0 0 9
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 3 0 1 1 4 0 9
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 4 3 0 0 0 8
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 2 4 2 0 0 0 8
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 3 3 2 0 0 0 8
Molecular Genetics Laboratory, Institute for Ophthalmic Research 8 0 0 0 0 0 8
Dasa 7 0 0 0 0 0 7
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 2 3 0 0 0 7
Gharavi Laboratory, Columbia University 0 0 6 0 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 5 1 0 0 0 0 6
Kariminejad - Najmabadi Pathology & Genetics Center 6 0 0 0 0 0 6
DNA-diagnostics Laboratory, Research Centre For Medical Genetics 0 1 4 0 0 0 5
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 4 1 0 0 0 0 5
Genome Diagnostics Laboratory, Amsterdam University Medical Center 5 0 0 0 0 0 5
Knight Diagnostic Laboratories, Oregon Health and Sciences University 2 3 0 0 0 0 5
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel 1 3 1 0 0 0 5
Daryl Scott Lab, Baylor College of Medicine 2 0 2 0 0 0 4
Dubai Health Genomic Medicine Center, Dubai Health 4 0 0 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 2 0 0 0 4
Institute of Vision Research, Yonsei University College of Medicine 2 2 0 0 0 0 4
Laboratory of Genetics, Children's Clinical University Hospital Latvia 1 0 0 2 1 0 4
MGZ Medical Genetics Center 3 0 0 1 0 0 4
Molecular Diagnostics Laboratory, Seoul National University Hospital 4 0 0 0 0 0 4
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 3 3 0 0 0 0 4
Sharon lab, Hadassah-Hebrew University Medical Center 4 0 0 0 0 0 4
Athena Diagnostics 0 0 0 1 2 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 2 1 0 0 0 0 3
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 0 3 0 0 0 0 3
Centre for Clinical Genetics and Genomic Diagnostics, Zealand University Hospital 2 0 1 0 0 0 3
Centre of Medical Genetics, University Hospital Muenster 2 1 0 0 0 0 3
Clinical Genetics Laboratory, Skane University Hospital Lund 2 1 0 0 0 0 3
Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development 3 0 0 0 0 0 3
First Genomix Gene Laboratory, Genetic Diagnostics Department 1 2 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 2 0 0 0 0 3
Medical and Scientific Branch, Hong Kong Genome Institute 2 1 0 0 0 0 3
Molecular Lab, University of Sulaimaniyah 0 3 0 0 0 0 3
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 1 0 2 0 0 0 3
NEI Ophthalmic Genomics Laboratory, National Institutes of Health 0 0 0 0 0 3 3
NIHR Bioresource Rare Diseases, University of Cambridge 1 1 1 0 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 1 0 0 0 0 3
Suma Genomics 2 0 1 0 0 0 3
Sydney Genome Diagnostics, Children's Hospital Westmead 0 2 1 0 0 0 3
AiLife Diagnostics, AiLife Diagnostics 0 0 2 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 1 0 0 0 0 2
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 0 2 0 0 0 2
Center for Reproductive Medicine, Peking University Third Hospital 2 0 0 0 0 0 2
Clinical Genetics and Genomics, Karolinska University Hospital 1 0 0 1 0 0 2
Department of Human Genetics, Hannover Medical School 0 0 2 0 0 0 2
Department of Molecular Genetics, Istishari Arab Hospital 2 0 0 0 0 0 2
Department of Ophthalmology and Visual Sciences Kyoto University 0 0 0 2 0 0 2
GeneReviews 1 0 0 0 0 2 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 2 0 0 0 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 0 2
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 2 0 0 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 2 0 0 0 0 0 2
Institute of Medical Molecular Genetics, University of Zurich 0 2 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 0 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 0 0 0 0 2
MVZ Martinsried, Medicover Genetics 2 0 0 0 0 0 2
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 2 0 0 0 0 0 2
Molecular Biology Laboratory, Fundació Puigvert 2 0 0 0 0 0 2
Molecular Endocrinology Laboratory, Christian Medical College 0 0 2 0 0 0 2
Pangenia Genomics, Pangenia Inc. 2 0 0 0 0 0 2
Pars Genome Lab 1 0 0 1 0 0 2
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 0 2 0 0 0 2
Rui Chen Lab, Baylor College of Medicine 2 0 0 0 0 0 2
SingHealth Duke-NUS Institute of Precision Medicine 0 2 0 0 0 0 2
Bionano Laboratories 0 0 1 0 0 0 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 0 1 0 0 0 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 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
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Institute of Human Genetics Munich, TUM University Hospital 1 0 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 1 0 0 0 0 0 1
Institute of Rare Diseases, West China Hospital, Sichuan University 1 0 0 0 0 0 1
Intergen Genetics and Rare Diseases Diagnosis Center 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 0 1
Laboratory of Genetics in Ophthalmology, Institut Imagine 0 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 1
Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center 1 0 0 0 0 0 1
Richard Lifton Laboratory, Yale University School of Medicine 0 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 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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