ClinVar Miner

Variants in gene CNGB3

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
124 69 203 116 48 2 479

Condition and significance breakdown #

Total conditions: 16
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 49 14 116 99 25 2 293
Achromatopsia 3 88 47 85 9 21 0 233
Stargardt disease 1 1 1 77 8 20 0 107
Achromatopsia 18 4 39 13 17 0 88
not specified 0 0 0 9 14 0 22
Retinal dystrophy 9 2 3 0 0 0 14
Stargardt Disease, Recessive 0 0 4 2 1 0 7
Abnormality of the eye 2 2 0 0 0 0 4
Leber congenital amaurosis 3 0 0 0 0 0 3
Retinitis pigmentosa 1 0 2 0 0 0 3
Achromatopsia 3; Stargardt disease 1 1 0 1 0 0 0 2
CNGB3-Related Disorders 1 1 0 0 0 0 2
Cone-rod dystrophy 1 0 0 0 0 0 1
Inborn genetic diseases 1 0 0 0 0 0 1
Macular dystrophy 0 1 0 0 0 0 1
Nystagmus; Abnormal electroretinogram 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 40
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 46 13 92 98 21 0 270
Illumina Clinical Services Laboratory,Illumina 1 2 80 13 22 0 112
Molecular Genetics Laboratory,Institute for Ophthalmic Research 87 11 7 0 0 0 103
Natera, Inc. 5 1 34 11 16 0 67
Counsyl 2 33 8 0 0 0 43
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 4 0 13 4 4 0 25
CeGaT Praxis fuer Humangenetik Tuebingen 4 0 13 1 0 0 18
PreventionGenetics, PreventionGenetics 0 0 0 4 13 0 17
GeneDx 5 2 3 2 4 0 16
Blueprint Genetics 9 1 3 0 0 0 13
Sharon lab,Hadassah-Hebrew University Medical Center 8 2 0 0 0 0 10
OMIM 5 0 1 0 0 0 6
Mendelics 2 1 0 0 2 0 5
Human Genetics - Radboudumc,Radboudumc 3 0 2 0 0 0 5
Centre for Mendelian Genomics,University Medical Centre Ljubljana 4 0 1 0 0 0 5
NIHR Bioresource Rare Diseases, University of Cambridge 2 3 0 0 0 0 5
Laboratory of Genetics in Ophthalmology,Institut Imagine 5 0 0 0 0 0 5
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 2 2 0 0 0 0 4
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 3 0 3
Institute of Medical Molecular Genetics, University of Zurich 0 3 0 0 0 0 3
GeneReviews 2 0 0 0 0 0 2
NEI Ophthalmic Genomics Laboratory,National Institutes of Health 0 0 0 0 0 2 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 0 2
Ocular Genomics Institute, Massachusetts Eye and Ear 1 1 0 0 0 0 2
Baylor Genetics 1 0 0 0 0 0 1
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 1 0 0 0 0 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 0 1
Ambry Genetics 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
Department of Ophthalmology and Visual Sciences Kyoto University 0 0 0 1 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 1
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 0 1 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 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 0 0 1 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1

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