ClinVar Miner

Variants in gene CRB1

Minimum submission review status: Collection method:
Minimum conflict level:
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
413 416 857 797 67 71 2219

Condition and significance breakdown #

Total conditions: 42
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Retinitis pigmentosa 12; Leber congenital amaurosis 8 314 89 438 752 31 1 1622
Leber congenital amaurosis 8 129 166 129 31 8 1 429
Leber congenital amaurosis 62 78 188 30 8 0 362
Retinitis pigmentosa 12 63 64 97 21 7 0 242
not provided 44 30 77 26 33 61 234
Retinal dystrophy 52 77 90 7 1 0 208
Pigmented paravenous retinochoroidal atrophy 29 23 101 28 31 0 205
Inborn genetic diseases 2 0 135 13 0 0 150
Retinitis pigmentosa 22 22 64 10 3 0 116
Pigmented paravenous retinochoroidal atrophy; Retinitis pigmentosa 12; Leber congenital amaurosis 8 30 49 19 4 0 0 102
not specified 0 0 58 9 8 0 74
CRB1-related disorder 12 5 7 11 3 0 36
Leber congenital amaurosis 1 8 5 3 4 0 0 20
Autosomal recessive retinitis pigmentosa 11 0 0 0 0 0 11
Hereditary macular dystrophy 2 0 8 0 0 0 10
Cone-rod dystrophy 2 3 2 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
Early-onset retinal dystrophy 3 0 0 0 0 0 3
Optic atrophy 0 1 2 0 0 0 3
Retinal disorder 0 3 0 0 0 0 3
Retinitis pigmentosa 40 3 0 0 0 0 0 3
Cone dystrophy 2 0 0 0 0 0 2
Hepatocellular carcinoma 0 0 0 0 0 2 2
Stargardt disease 1 0 1 0 0 0 2
Abnormality of the eye 0 1 0 0 0 0 1
Autosomal recessive CRB1-related disorders 0 1 0 0 0 0 1
Autosomal recessive bestrophinopathy 0 1 0 0 0 0 1
Colon adenocarcinoma 0 0 0 0 0 1 1
Gastric cancer 0 0 0 0 0 1 1
Glioma susceptibility 1 0 0 0 0 0 1 1
Lung cancer 0 0 0 0 0 1 1
Malignant tumor of urinary bladder 0 0 0 0 0 1 1
Melanoma 0 0 0 0 0 1 1
Pigmented paravenous retinochoroidal atrophy; Retinitis pigmentosa 12 1 0 0 0 0 0 1
Retinitis pigmentosa 13 0 1 0 0 0 0 1
Retinitis pigmentosa-deafness syndrome 1 0 0 0 0 0 1
Schizophrenia 0 0 1 0 0 0 1
Severe early-childhood-onset retinal dystrophy 1 0 0 0 0 0 1
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 1 1
Uterine corpus endometrial carcinoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 96
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 314 86 438 756 31 0 1625
Natera, Inc. 49 72 187 30 8 0 346
Genome-Nilou Lab 48 33 78 24 9 0 192
Baylor Genetics 78 95 1 0 0 0 174
Ambry Genetics 2 0 135 13 0 0 150
Fulgent Genetics, Fulgent Genetics 30 49 19 4 0 0 102
GeneDx 18 9 22 5 30 0 84
Laboratory of Genetics in Ophthalmology, Institut Imagine 43 29 4 0 0 0 76
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 12 9 54 0 1 0 76
Illumina Laboratory Services, Illumina 3 0 57 15 25 0 73
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg 18 31 22 0 0 0 71
Blueprint Genetics 23 21 25 0 0 0 69
CeGaT Center for Human Genetics Tuebingen 19 5 28 12 0 0 64
Retina International 0 0 0 0 0 60 60
Dept Of Ophthalmology, Nagoya University 5 6 38 7 1 0 57
PreventionGenetics, part of Exact Sciences 9 4 5 13 5 0 36
Eurofins Ntd Llc (ga) 8 1 17 2 6 0 34
3billion 9 12 8 0 0 0 29
Mendelics 12 7 3 4 0 0 26
Revvity Omics, Revvity 8 10 6 0 0 0 24
Ocular Genomics Institute, Massachusetts Eye and Ear 2 7 11 1 0 0 21
Breakthrough Genomics, Breakthrough Genomics 0 0 2 7 11 0 20
Molecular Genetics Laboratory, Institute for Ophthalmic Research 18 0 1 0 0 0 19
NIHR Bioresource Rare Diseases, University of Cambridge 3 13 1 0 0 0 17
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
DBGen Ocular Genomics 4 8 1 0 0 0 13
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 5 8 1 0 0 0 13
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 6 1 4 1 1 0 13
OMIM 13 0 0 0 0 0 13
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 3 0 4 5 0 0 12
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
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel 6 4 2 0 0 0 12
Faculty of Health Sciences, Beirut Arab University 11 0 0 0 0 0 11
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 4 4 2 0 0 0 10
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 0 4 6 0 0 0 10
Department of Pathology and Laboratory Medicine, Sinai Health System 2 0 8 0 0 0 10
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 10 10
Lab De Baere, Eye and Developmental Genetics Lab, Ghent University 4 4 2 0 0 0 10
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 2 4 0 0 0 9
SingHealth Duke-NUS Institute of Precision Medicine 2 7 0 0 0 0 9
Institute of Medical Molecular Genetics, University of Zurich 0 7 0 0 0 0 7
Dasa 5 1 0 0 0 0 6
Leeds Institute of Medical Research, University of Leeds 6 0 0 0 0 0 6
Dubai Health Genomic Medicine Center, Dubai Health 1 3 1 0 0 0 5
Genomics England Pilot Project, Genomics England 2 3 0 0 0 0 5
INSERM U1051, Institut des Neurosciences de Montpellier 2 2 1 0 0 0 5
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 1 3 0 0 4
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 2 1 0 0 0 4
First Genomix Gene Laboratory, Genetic Diagnostics Department 1 3 0 0 0 0 4
Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences 1 3 0 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 2 0 0 0 0 4
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 0 3 0 0 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 2 1 0 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 1 1 1 0 0 0 3
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation 0 2 1 0 0 0 3
Department of Medical Genetics, Erciyes University Faculty of Medicine 0 2 0 0 0 0 2
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences 2 0 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 1 0 0 0 2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 1 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
Pangenia Genomics, Pangenia Inc. 1 1 0 0 0 0 2
Pars Genome Lab 0 0 0 2 0 0 2
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 0 1
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 1 0 0 0 0 0 1
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 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
Department of Molecular Genetics, Istishari Arab Hospital 1 0 0 0 0 0 1
Department of Ophthalmology and Visual Sciences Kyoto University 1 0 0 0 0 0 1
Department of Psychiatry, The University of Hong Kong 0 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
GeneReviews 0 0 0 0 0 1 1
Genetics Department, Catlab 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 0 0 1
Institute of Vision Research, Yonsei University College of Medicine 1 0 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 1
Kunming Medical University 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 0 1
Molecular Genetics Center, Sichuan Provincial People's Hospital 0 1 0 0 0 0 1
Moosajee Lab, UCL Institute of Ophthalmology 1 0 0 0 0 0 1
NEI Ophthalmic Genomics Laboratory, National Institutes of Health 0 0 0 0 0 1 1
Regional Center For Medical Genetics Timis, Louis Turcanu Emergency Hospital for Children Timisoara 0 1 0 0 0 0 1
Rui Chen Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Variantyx, Inc. 0 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 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. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.