ClinVar Miner

Variants in gene PDE6B

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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
69 49 296 84 76 3 459

Condition and significance breakdown #

Total conditions: 19
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 37 13 190 59 29 1 320
Retinitis pigmentosa 22 13 109 12 6 0 157
Congenital stationary night blindness, autosomal dominant 2 2 0 50 12 61 0 125
Retinitis pigmentosa 40 18 12 18 0 0 2 46
Retinal dystrophy 9 17 15 0 0 0 41
not specified 0 0 2 4 17 0 22
Autosomal recessive retinitis pigmentosa 5 0 0 0 0 0 5
none provided 0 0 2 0 3 0 5
Congenital Stationary Night Blindness, Dominant 0 0 2 1 0 0 3
Retinitis Pigmentosa, Recessive 0 0 2 1 0 0 3
Cone-rod dystrophy 1 0 0 0 0 0 1
Congenital stationary night blindness 0 1 0 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
Progressive cone dystrophy (without rod involvement) 0 1 0 0 0 0 1
Rod-cone dystrophy 0 1 0 0 0 0 1
Severe Myopia 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 34
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 33 7 174 58 25 0 297
Illumina Clinical Services Laboratory,Illumina 0 1 109 24 61 0 127
Blueprint Genetics 9 16 15 0 0 0 40
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 4 0 17 1 10 0 32
GeneDx 6 3 4 2 11 0 26
CeGaT Praxis fuer Humangenetik Tuebingen 4 3 9 0 0 0 16
Molecular Genetics Laboratory,Institute for Ophthalmic Research 11 5 3 0 0 0 14
Ocular Genomics Institute, Massachusetts Eye and Ear 3 3 6 0 0 0 12
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 1 7 3 0 0 0 11
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 3 1 7 0 11
NIHR Bioresource Rare Diseases, University of Cambridge 2 8 0 0 0 0 10
Human Genetics - Radboudumc,Radboudumc 7 1 1 0 0 0 9
OMIM 8 0 0 0 0 0 8
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,Partners HealthCare Personalized Medicine 2 1 1 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
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
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Broad Institute Rare Disease Group, Broad Institute 0 1 1 0 0 0 2
Baylor Genetics 1 0 0 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
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences 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 1 0 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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Institute of Human Genetics,Polish Academy of Sciences 0 0 1 0 0 0 1

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