ClinVar Miner

Variants in gene CRB1

Minimum submission review status: Collection method:
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Gene type:
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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
178 133 303 185 41 61 740

Condition and significance breakdown #

Total conditions: 23
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Retinitis pigmentosa 12; Leber congenital amaurosis 8 93 24 153 149 20 0 439
Leber congenital amaurosis 8 50 35 64 15 1 0 160
not provided 27 9 42 30 1 61 157
Retinitis pigmentosa 18 17 59 10 3 0 105
Retinal dystrophy 24 31 32 0 0 0 82
Pigmented paravenous chorioretinal atrophy 4 2 39 11 27 0 81
Leber congenital amaurosis 20 6 25 11 5 0 66
Retinitis pigmentosa 12 13 8 11 1 0 0 33
Leber congenital amaurosis 1 8 6 2 4 0 0 20
not specified 0 0 3 9 8 0 19
Autosomal recessive retinitis pigmentosa 11 0 0 0 0 0 11
CRB1-Related Disorders 3 0 4 0 0 0 7
Macular dystrophy 6 1 0 0 0 0 6
CRB1-related maculopathy 0 4 0 0 0 0 4
Intellectual disability 0 0 1 3 0 0 4
none provided 0 1 1 0 2 0 4
Early-onset retinal dystrophy 3 0 0 0 0 0 3
Retinitis Pigmentosa, Recessive 0 0 2 1 0 0 3
Inborn genetic diseases 2 0 0 0 0 0 2
Pigmented paravenous chorioretinal atrophy; Retinitis pigmentosa 12; Leber congenital amaurosis 8 1 0 1 0 0 0 2
Stargardt disease 1 0 1 0 0 0 2
Bestrophinopathy, autosomal recessive 0 1 0 0 0 0 1
Cone-rod dystrophy 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 50
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 93 24 153 162 20 0 452
Illumina Clinical Services Laboratory,Illumina 3 0 63 16 27 0 80
Laboratory of Genetics in Ophthalmology,Institut Imagine 41 28 4 0 0 0 73
Blueprint Genetics 23 21 25 0 0 0 69
Retina International 0 0 0 0 0 60 60
Natera, Inc. 9 0 22 10 5 0 46
CeGaT Praxis fuer Humangenetik Tuebingen 15 2 23 1 0 0 41
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 8 1 17 2 6 0 34
Mendelics 9 6 2 4 0 0 21
Ocular Genomics Institute, Massachusetts Eye and Ear 2 7 11 1 0 0 21
Molecular Genetics Laboratory,Institute for Ophthalmic Research 18 0 1 0 0 0 19
GeneDx 6 2 5 2 2 0 17
NIHR Bioresource Rare Diseases, University of Cambridge 3 13 1 0 0 0 17
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 4 8 3 0 0 0 15
Sharon lab,Hadassah-Hebrew University Medical Center 9 6 0 0 0 0 15
OMIM 13 0 0 0 0 0 13
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 2 1 2 4 4 0 13
Faculty of Health Sciences,Beirut Arab University 11 0 0 0 0 0 11
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 0 4 6 0 0 0 10
Centre for Mendelian Genomics,University Medical Centre Ljubljana 3 2 4 0 0 0 9
Institute of Medical Molecular Genetics, University of Zurich 0 7 0 0 0 0 7
Molecular Medicine,University of Leeds 6 0 0 0 0 0 6
INSERM U1051, Institut des Neurosciences de Montpellier 2 2 1 0 0 0 5
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 4 1 0 0 0 0 5
PreventionGenetics, PreventionGenetics 0 0 0 2 2 0 4
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 1 3 0 0 4
Baylor Genetics 2 0 1 0 0 0 3
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 3 0 0 0 0 3
Human Genetics - Radboudumc,Radboudumc 2 0 1 0 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 1 0 0 0 2
Ambry Genetics 2 0 0 0 0 0 2
Molecular Diagnostics Laboratory,Seoul National University Hospital 2 0 0 0 0 0 2
Fulgent Genetics,Fulgent Genetics 1 0 1 0 0 0 2
Genetics Research Center,University of Social Welfare and Rehabilitation Sciences 2 0 0 0 0 0 2
Broad Institute Rare Disease Group, Broad Institute 0 2 0 0 0 0 2
Pars Genome Lab 0 0 0 2 0 0 2
GeneReviews 1 0 0 0 0 0 1
NEI Ophthalmic Genomics Laboratory,National Institutes of Health 0 0 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 1
Department of Ophthalmology and Visual Sciences Kyoto University 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Rui Chen Lab,Baylor College of Medicine 1 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Moosajee Lab,UCL Institute of Ophthalmology 1 0 0 0 0 0 1
Nilou-Genome Lab 0 0 0 1 0 0 1
Institute of Vision Research, Yonsei University College of Medicine 1 0 0 0 0 0 1

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