ClinVar Miner

Variants in gene CNGB1

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
98 81 666 470 93 6 1246

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 85 38 472 428 78 5 1064
Retinitis pigmentosa 15 22 151 21 29 0 232
Retinal dystrophy 10 16 68 8 16 0 117
Retinitis pigmentosa 45 18 16 20 8 19 1 78
Inborn genetic diseases 0 0 56 6 0 0 62
not specified 0 0 6 7 29 0 42
CNGB1-related condition 1 0 0 16 5 0 22
Retinitis Pigmentosa, Recessive 0 0 8 8 0 0 16
Autosomal recessive retinitis pigmentosa 3 0 0 0 0 0 3
Retinitis pigmentosa 49 0 0 1 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 79 32 446 415 77 0 1049
Illumina Laboratory Services, Illumina 1 1 151 28 29 0 210
Dept Of Ophthalmology, Nagoya University 0 7 55 8 16 0 86
Ambry Genetics 0 0 56 6 0 0 62
Eurofins Ntd Llc (ga) 3 0 21 4 17 0 45
GeneDx 5 4 19 1 3 0 32
CeGaT Center for Human Genetics Tuebingen 7 1 10 8 3 0 29
Blueprint Genetics 10 7 10 0 0 0 27
PreventionGenetics, part of Exact Sciences 1 0 0 17 8 0 26
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 5 4 10 0 19
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 2 0 2 14 0 0 18
Fulgent Genetics, Fulgent Genetics 5 2 8 2 0 0 17
Clinical Genetics, Academic Medical Center 1 0 1 3 10 0 15
Ocular Genomics Institute, Massachusetts Eye and Ear 5 6 1 0 0 0 12
Genome-Nilou Lab 0 0 0 0 12 0 12
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 6 4 0 0 0 11
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 2 6 1 0 0 11
NIHR Bioresource Rare Diseases, University of Cambridge 1 9 1 0 0 0 11
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 1 1 0 7 0 10
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 7 0 7
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 0 2 4 0 0 0 6
Molecular Genetics Laboratory, Institute for Ophthalmic Research 5 0 0 0 0 0 5
NEI Ophthalmic Genomics Laboratory, National Institutes of Health 0 0 0 0 0 5 5
Sharon lab, Hadassah-Hebrew University Medical Center 4 1 0 0 0 0 5
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 3 2 0 0 0 5
Revvity Omics, Revvity 2 1 1 0 0 0 4
3billion 2 1 1 0 0 0 4
OMIM 3 0 0 0 0 0 3
Mendelics 2 0 0 1 0 0 3
INSERM U1051, Institut des Neurosciences de Montpellier 1 1 1 0 0 0 3
Faculty of Health Sciences, Beirut Arab University 3 0 0 0 0 0 3
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel 1 2 0 0 0 0 3
Baylor Genetics 1 0 1 0 0 0 2
Institute of Medical Molecular Genetics, University of Zurich 0 2 0 0 0 0 2
Department of Ophthalmology and Visual Sciences Kyoto University 0 2 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 0 2
Moosajee Lab, UCL Institute of Ophthalmology 0 2 0 0 0 0 2
DBGen Ocular Genomics 1 0 1 0 0 0 2
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 1
Bionano Laboratories 1 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 1 0 0 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 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 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 0 1 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Payam Genetics Center, General Welfare Department of North Khorasan Province 0 1 0 0 0 0 1

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