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
12 24 121 49 20 5 194

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Retinitis Pigmentosa, Recessive 0 0 87 37 3 0 127
not provided 6 5 30 4 5 5 52
Retinitis pigmentosa 3 17 7 0 0 0 24
not specified 0 0 0 6 17 0 23
Retinitis pigmentosa 45 4 1 0 4 1 0 9
Retinal dystrophy 0 2 4 0 0 0 6
Retinitis pigmentosa 49 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 1 1 89 37 3 0 131
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 3 0 21 4 17 0 45
GeneDx 3 3 8 1 0 0 15
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 1 6 4 0 0 0 11
NIHR Bioresource Rare Diseases,University of Cambridge 1 9 1 0 0 0 11
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 1 3 4 0 8
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 5 0 0 0 7
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 0 2 4 0 0 0 6
NEI Ophthalmic Genomics Laboratory,National Institutes of Health 0 0 0 0 0 5 5
PreventionGenetics 0 0 0 1 3 0 4
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 4 0 0 4
OMIM 3 0 0 0 0 0 3
Department of Ophthalmology and Visual Sciences Kyoto University 0 2 0 0 0 0 2
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
Human Genetics - Radboudumc,Radboudumc 1 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 1 0 1
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 1

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