ClinVar Miner

Variants in gene RBP3

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
33 15 654 323 38 2 981

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 30 2 531 306 32 0 886
Retinitis pigmentosa 2 0 87 5 9 0 103
Retinal dystrophy 1 6 52 13 5 0 77
Inborn genetic diseases 0 0 66 1 0 0 67
Retinitis pigmentosa 66 4 5 41 0 2 2 53
RBP3-related condition 0 1 0 19 0 0 20
not specified 0 0 0 2 9 0 10
Retinitis Pigmentosa, Recessive 0 0 4 0 0 0 4
Retinitis pigmentosa; Retinitis pigmentosa 66 0 0 1 3 0 0 4
Autosomal recessive retinitis pigmentosa 1 0 0 0 0 0 1
Cone-rod dystrophy 1 0 0 0 0 0 1
Congenital stationary night blindness 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 30 0 514 301 32 0 877
Illumina Laboratory Services, Illumina 0 0 90 5 9 0 104
Dept Of Ophthalmology, Nagoya University 1 3 48 13 5 0 70
Ambry Genetics 0 0 66 1 0 0 67
ClinVar Staff, National Center for Biotechnology Information (NCBI) 1 0 38 0 0 0 39
Eurofins Ntd Llc (ga) 0 0 16 2 4 0 22
PreventionGenetics, part of Exact Sciences 0 1 0 19 0 0 20
CeGaT Center for Human Genetics Tuebingen 0 1 10 6 1 0 18
GeneDx 0 1 6 0 0 0 7
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 5 1 0 7
Clinical Genetics, Academic Medical Center 0 0 0 1 4 0 5
Blueprint Genetics 0 1 4 0 0 0 5
Revvity Omics, Revvity 0 0 4 0 0 0 4
Fulgent Genetics, Fulgent Genetics 0 0 1 3 0 0 4
Molecular Genetics Laboratory, Institute for Ophthalmic Research 2 0 0 0 0 0 2
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 0 2 0 0 0 0 2
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 0 2 0 0 0 0 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 1 0 1 0 2
Ocular Genomics Institute, Massachusetts Eye and Ear 1 1 0 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
3billion 2 0 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
OMIM 1 0 0 0 0 0 1
Mendelics 0 0 0 0 1 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
Sharon lab, Hadassah-Hebrew University Medical Center 1 0 0 0 0 0 1
Breda Genetics srl 0 1 0 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 1
Faculty of Health Sciences, Beirut Arab University 1 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1

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