ClinVar Miner

Variants in gene CNGB1

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:

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
115 120 707 522 92 6 1372

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 92 44 473 487 84 5 1130
Retinitis pigmentosa 19 23 149 21 29 0 235
Retinal dystrophy 21 20 93 10 17 0 155
Retinitis pigmentosa 45 29 62 23 8 19 1 133
Inborn genetic diseases 0 0 118 11 0 0 129
not specified 0 0 13 7 29 0 49
CNGB1-related disorder 3 0 4 23 5 0 35
Retinitis Pigmentosa, Recessive 0 0 8 8 0 0 16
CNGB1-related retinopathy 1 1 9 1 0 0 12
Autosomal recessive retinitis pigmentosa 3 0 0 0 0 0 3
Optic atrophy 0 0 2 0 0 0 2
Retinitis pigmentosa 49 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 56
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 86 37 446 461 77 0 1107
Illumina Laboratory Services, Illumina 1 1 149 28 29 0 208
Ambry Genetics 0 0 118 11 0 0 129
Dept Of Ophthalmology, Nagoya University 0 7 55 8 16 0 86
Fulgent Genetics, Fulgent Genetics 14 46 8 2 0 0 70
Breakthrough Genomics, Breakthrough Genomics 0 0 7 18 29 0 54
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg 12 3 29 2 1 0 47
Eurofins Ntd Llc (ga) 3 0 21 4 17 0 45
PreventionGenetics, part of Exact Sciences 3 0 4 24 8 0 39
GeneDx 8 4 20 1 3 0 36
CeGaT Center for Human Genetics Tuebingen 6 2 11 10 3 0 32
Blueprint Genetics 10 7 10 0 0 0 27
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 6 3 13 1 0 0 23
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
Clinical Genetics, Academic Medical Center 1 0 1 3 10 0 15
Department of Pathology and Laboratory Medicine, Sinai Health System 1 2 10 2 0 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
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
3billion 5 2 1 0 0 0 8
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
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel 2 3 0 0 0 0 5
Revvity Omics, Revvity 2 1 1 0 0 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 3 0 1 0 0 0 4
OMIM 3 0 0 0 0 0 3
Baylor Genetics 2 0 1 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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 0 0 0 0 0 3
Faculty of Health Sciences, Beirut Arab University 3 0 0 0 0 0 3
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
Moosajee Lab, UCL Institute of Ophthalmology 0 2 0 0 0 0 2
DBGen Ocular Genomics 1 0 1 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 1 0 0 0 2
Lab De Baere, Eye and Developmental Genetics Lab, Ghent University 1 1 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 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
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
Genomics, Clalit Research Institute, Clalit Health Care 0 1 0 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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