ClinVar Miner

Variants in gene RGR

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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
3 4 179 122 12 1 305

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 0 0 141 118 10 1 269
Retinitis pigmentosa 0 1 25 0 6 0 32
not specified 0 0 25 4 5 0 32
Retinal dystrophy 1 1 16 1 4 0 23
Retinitis pigmentosa 44 2 2 10 0 3 0 15
RGR-related disorder 0 0 2 4 0 0 6
Cone dystrophy 0 0 1 0 0 0 1
Optic atrophy 0 0 1 0 0 0 1
Retinitis Pigmentosa, Recessive 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 0 0 132 118 8 0 258
Illumina Laboratory Services, Illumina 0 0 24 1 6 0 31
Ambry Genetics 0 0 24 2 0 0 26
Dept Of Ophthalmology, Nagoya University 0 0 10 1 4 0 15
Eurofins Ntd Llc (ga) 0 0 5 2 3 0 10
Breakthrough Genomics, Breakthrough Genomics 0 0 3 0 7 0 10
GeneDx 0 0 8 0 0 0 8
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg 0 1 7 0 0 0 8
PreventionGenetics, part of Exact Sciences 0 0 2 4 0 0 6
Clinical Genetics, Academic Medical Center 0 0 1 1 2 0 4
CeGaT Center for Human Genetics Tuebingen 0 0 3 1 0 0 4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 3 0 0 4
Mendelics 0 1 2 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 0 3 0 0 0 3
OMIM 2 0 0 0 0 0 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 0 2 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
Baylor Genetics 0 0 1 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 1 0 1
Institute of Medical Molecular Genetics, University of Zurich 0 1 0 0 0 0 1
NEI Ophthalmic Genomics Laboratory, National Institutes of Health 0 0 0 0 0 1 1
Fulgent Genetics, Fulgent Genetics 0 0 1 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
3billion 0 0 1 0 0 0 1
Department of Medical Genetics, Erciyes University Faculty of Medicine 0 0 1 0 0 0 1

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