ClinVar Miner

Variants in gene PDE6B

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
25 22 67 42 23 1 160

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Retinitis Pigmentosa, Recessive 0 0 35 41 8 0 84
Congenital Stationary Night Blindness, Dominant 0 0 35 40 8 0 83
not provided 7 6 26 1 4 1 45
Retinitis pigmentosa 7 12 5 0 0 0 23
Retinitis pigmentosa 40 15 3 2 0 0 0 19
not specified 0 0 0 3 16 0 18
Congenital stationary night blindness 0 1 0 0 0 0 1
Congenital stationary night blindness, autosomal dominant 2 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
Retinal dystrophy 0 1 0 0 0 0 1
Severe Myopia 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 1 38 41 8 0 88
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 4 0 17 1 10 0 32
GeneDx 5 3 4 2 11 0 25
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 1 7 3 0 0 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
CeGaT Praxis fuer Humangenetik Tuebingen 0 3 5 0 0 0 8
Department of Ophthalmology and Visual Sciences Kyoto University 3 2 0 0 0 0 5
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 0 3 0 0 0 0 3
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 3 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 0 0 0 0 0 2
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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 0 1
Institute of Human Genetics,Polish Academy of Sciences 0 0 1 0 0 0 1

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