ClinVar Miner

Variants in gene PDE6B

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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
109 83 588 365 124 5 1096

Condition and significance breakdown #

Total conditions: 24
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 80 35 452 339 92 1 968
Retinitis pigmentosa 25 16 111 12 6 0 165
Congenital stationary night blindness autosomal dominant 2 3 0 50 12 61 0 126
Retinal dystrophy 14 23 61 7 2 0 105
Retinitis pigmentosa 40 21 21 23 0 2 2 64
Inborn genetic diseases 0 0 37 2 0 0 39
not specified 0 0 2 4 19 0 24
PDE6B-related condition 2 1 0 12 0 0 15
Congenital stationary night blindness autosomal dominant 2; Retinitis pigmentosa 40 3 1 1 2 0 0 7
Autosomal recessive retinitis pigmentosa 5 0 0 0 0 0 5
Congenital Stationary Night Blindness, Dominant 0 0 2 1 0 0 3
Retinitis Pigmentosa, Recessive 0 0 2 1 0 0 3
Rod-cone dystrophy 1 1 0 0 0 0 2
Autosomal recessive retinitis pigmentosa; Congenital Stationary Night Blindness, Dominant 0 0 0 0 0 1 1
Cone-rod dystrophy 1 0 0 0 0 0 1
Congenital stationary night blindness 0 1 0 0 0 0 1
High myopia 0 0 1 0 0 0 1
Leber congenital amaurosis 1 0 0 0 0 0 1
Macular dystrophy 0 0 1 0 0 0 1
Malignant tumor of prostate 0 0 1 0 0 0 1
PDE6B-Related Disorders 0 1 0 0 0 0 1
PDE6B-related disease 0 0 0 0 0 1 1
PDE6B-related disorder 1 0 0 0 0 0 1
Progressive cone dystrophy (without rod involvement) 0 1 0 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
Invitae 74 27 429 322 49 0 901
Illumina Laboratory Services, Illumina 0 1 109 24 60 0 127
GeneDx 9 7 13 14 57 0 100
Dept Of Ophthalmology, Nagoya University 6 6 48 7 2 0 69
Blueprint Genetics 9 16 15 0 0 0 40
Ambry Genetics 0 0 37 2 0 0 39
Eurofins Ntd Llc (ga) 4 0 17 1 10 0 32
CeGaT Center for Human Genetics Tuebingen 6 3 8 8 2 0 27
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 5 3 9 0 0 0 17
PreventionGenetics, part of Exact Sciences 2 1 0 12 0 0 15
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 9 2 3 0 1 0 15
Molecular Genetics Laboratory, Institute for Ophthalmic Research 11 5 3 0 0 0 14
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 3 2 7 0 12
Ocular Genomics Institute, Massachusetts Eye and Ear 3 3 6 0 0 0 12
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 7 3 0 0 0 11
NIHR Bioresource Rare Diseases, University of Cambridge 2 8 0 0 0 0 10
Clinical Genetics, Academic Medical Center 3 1 1 1 3 0 9
OMIM 8 0 0 0 0 0 8
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 2 0 2 3 1 0 8
Fulgent Genetics, Fulgent Genetics 3 1 1 2 0 0 7
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 6 0 0 0 7
Mendelics 3 0 0 0 2 0 5
Department of Ophthalmology and Visual Sciences Kyoto University 3 2 0 0 0 0 5
Faculty of Health Sciences, Beirut Arab University 5 0 0 0 0 0 5
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 1 1 0 0 0 4
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center 0 0 0 0 3 0 3
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 0 3 0 0 0 0 3
Sharon lab, Hadassah-Hebrew University Medical Center 3 0 0 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 1 0 0 0 0 3
Genome-Nilou Lab 1 0 0 0 2 0 3
3billion 0 2 1 0 0 0 3
DBGen Ocular Genomics 1 2 0 0 0 0 3
Genomics England Pilot Project, Genomics England 2 1 0 0 0 0 3
Genetics and Molecular Pathology, SA Pathology 0 1 1 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
Revvity Omics, Revvity 0 0 1 0 0 0 1
NEI Ophthalmic Genomics Laboratory, National Institutes of Health 0 0 0 0 0 1 1
Science for Life laboratory, Karolinska Institutet 0 0 1 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 0 1
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 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 1 0 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Institute of Human Genetics, Polish Academy of Sciences 0 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 1 0 0 0 1
Molecular Medicine, University of Pavia 0 0 1 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 1 0 0 0 0 0 1
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel 0 1 0 0 0 0 1
Human Genetics, Hazara University Mansehra 0 1 0 0 0 0 1

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