ClinVar Miner

Variants in gene CNGB1

Minimum submission review status: Collection method:
Minimum conflict level:
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
58 52 369 94 44 5 555

Condition and significance breakdown #

Total conditions: 8
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 41 17 235 58 9 5 356
Retinitis pigmentosa 14 18 149 21 29 0 225
Retinitis pigmentosa 45 9 12 8 5 11 0 43
Retinal dystrophy 10 9 14 0 0 0 32
not specified 0 0 0 6 17 0 23
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: 35
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 35 14 215 53 8 0 325
Illumina Clinical Services Laboratory,Illumina 1 1 151 28 29 0 210
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 3 0 21 4 17 0 45
Blueprint Genetics 10 7 10 0 0 0 27
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 5 4 10 0 19
CeGaT Praxis fuer Humangenetik Tuebingen 6 1 9 0 0 0 16
GeneDx 3 3 8 1 0 0 15
Ocular Genomics Institute, Massachusetts Eye and Ear 5 6 1 0 0 0 12
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
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
PreventionGenetics, 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
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
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
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 1
Lineagen, Inc 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
Human Genetics - Radboudumc,Radboudumc 1 0 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
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 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. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.