ClinVar Miner

Variants in gene CRB1

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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
366 296 654 751 68 61 1902

Condition and significance breakdown #

Total conditions: 28
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Retinitis pigmentosa 12; Leber congenital amaurosis 8 288 82 421 716 31 1 1538
Leber congenital amaurosis 8 119 138 130 31 8 1 396
Retinitis pigmentosa 12 57 53 93 21 7 0 224
Pigmented paravenous retinochoroidal atrophy 29 22 102 28 32 0 206
not provided 36 23 69 15 30 61 202
Leber congenital amaurosis 30 12 99 28 8 0 176
Retinal dystrophy 30 38 70 7 1 0 140
Retinitis pigmentosa 22 19 61 10 3 0 111
Inborn genetic diseases 2 0 40 3 0 0 45
Pigmented paravenous retinochoroidal atrophy; Retinitis pigmentosa 12; Leber congenital amaurosis 8 9 5 18 4 0 0 36
not specified 0 0 18 9 8 0 34
CRB1-related condition 3 3 2 9 3 0 20
Leber congenital amaurosis 1 8 6 2 4 0 0 20
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
Cone-rod dystrophy 1 1 2 0 0 0 4
Intellectual disability 0 0 1 3 0 0 4
Early-onset retinal dystrophy 3 0 0 0 0 0 3
Retinitis Pigmentosa, Recessive 0 0 2 1 0 0 3
Cone dystrophy 2 0 0 0 0 0 2
Stargardt disease 1 0 1 0 0 0 2
Abnormality of the eye 0 1 0 0 0 0 1
Autosomal recessive bestrophinopathy 0 1 0 0 0 0 1
CRB1-related disorder 1 0 0 0 0 0 1
Retinitis pigmentosa-deafness syndrome 1 0 0 0 0 0 1
Schizophrenia 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 77
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 288 82 421 720 31 0 1542
Genome-Nilou Lab 48 33 78 24 9 0 192
Natera, Inc. 19 6 96 27 8 0 156
Baylor Genetics 67 73 1 0 0 0 141
Illumina Laboratory Services, Illumina 3 0 63 16 26 0 80
Laboratory of Genetics in Ophthalmology, Institut Imagine 43 29 4 0 0 0 76
GeneDx 13 5 19 5 30 0 72
Blueprint Genetics 23 21 25 0 0 0 69
Retina International 0 0 0 0 0 60 60
Dept Of Ophthalmology, Nagoya University 5 6 38 7 1 0 57
CeGaT Center for Human Genetics Tuebingen 18 4 26 7 0 0 55
Ambry Genetics 2 0 40 3 0 0 45
Fulgent Genetics, Fulgent Genetics 9 5 18 4 0 0 36
Eurofins Ntd Llc (ga) 8 1 17 2 6 0 34
Mendelics 12 8 2 4 0 0 26
PreventionGenetics, part of Exact Sciences 3 3 2 11 5 0 24
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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 2 14 0 0 0 19
NIHR Bioresource Rare Diseases, University of Cambridge 3 13 1 0 0 0 17
Revvity Omics, Revvity 5 7 4 0 0 0 16
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 4 8 3 0 0 0 15
Sharon lab, Hadassah-Hebrew University Medical Center 9 6 0 0 0 0 15
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 2 1 2 5 4 0 14
OMIM 13 0 0 0 0 0 13
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 6 1 4 1 1 0 13
3billion 2 7 4 0 0 0 13
DBGen Ocular Genomics 4 8 1 0 0 0 13
Clinical Genetics, Academic Medical Center 3 1 5 2 1 0 12
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 11 1 0 0 0 0 12
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 3 0 4 5 0 0 12
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
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 4 4 2 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
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel 3 0 2 0 0 0 5
Genomics England Pilot Project, Genomics England 2 3 0 0 0 0 5
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 1 3 0 0 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 3 1 0 0 0 0 4
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 2 1 0 0 0 4
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 3 0 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 1 0 0 0 2
MGZ Medical Genetics Center 1 1 0 0 0 0 2
Molecular Diagnostics Laboratory, Seoul National University Hospital 2 0 0 0 0 0 2
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences 2 0 0 0 0 0 2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 1 0 0 2
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 1 0 0 0 2
Pars Genome Lab 0 0 0 2 0 0 2
DASA 1 1 0 0 0 0 2
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 1 1 0 0 0 0 2
Pangenia Genomics, Pangenia Inc. 1 1 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 0 0 1 0 0 0 1
GeneReviews 0 0 0 0 0 1 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
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 1 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
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1
Moosajee Lab, UCL Institute of Ophthalmology 1 0 0 0 0 0 1
Institute of Vision Research, Yonsei University College of Medicine 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 0 1
Kunming Medical University 0 1 0 0 0 0 1
Department of Psychiatry, The University of Hong Kong 0 0 1 0 0 0 1

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