ClinVar Miner

Variants in gene RBP3

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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 total
17 7 337 83 27 434

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 12 1 251 77 23 358
Retinitis pigmentosa 2 0 87 5 9 103
Retinitis pigmentosa 66 2 2 38 0 0 42
Retinal dystrophy 0 3 4 0 0 7
not specified 0 0 0 2 4 6
Retinitis Pigmentosa, Recessive 0 0 4 0 0 4
Autosomal recessive retinitis pigmentosa 1 0 0 0 0 1
Cone-rod degeneration 1 0 0 0 0 1
Congenital stationary night blindness 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 12 0 236 77 23 348
Illumina Clinical Services Laboratory,Illumina 0 0 90 5 9 104
ClinVar Staff, National Center for Biotechnology Information (NCBI) 1 0 38 0 0 39
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 16 2 4 22
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 5 1 0 6
Blueprint Genetics 0 1 4 0 0 5
GeneDx 0 1 3 0 0 4
Molecular Genetics Laboratory,Institute for Ophthalmic Research 2 0 0 0 0 2
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 0 2 0 0 0 2
Ocular Genomics Institute, Massachusetts Eye and Ear 1 1 0 0 0 2
OMIM 1 0 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 1
Sharon lab,Hadassah-Hebrew University Medical Center 1 0 0 0 0 1
Breda Genetics srl 0 1 0 0 0 1
Faculty of Health Sciences,Beirut Arab University 1 0 0 0 0 1

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