ClinVar Miner

Variants in gene RP1

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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
117 63 356 100 32 2 605

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 76 10 275 80 16 2 447
Retinitis pigmentosa 26 22 75 14 21 0 154
Retinal dystrophy 9 26 25 0 0 0 58
Retinitis pigmentosa 1 16 13 5 8 5 0 45
not specified 0 0 2 6 10 0 15
Autosomal recessive retinitis pigmentosa 11 0 0 0 0 0 11
Retinitis Pigmentosa, Dominant 0 0 2 2 0 0 4
Inborn genetic diseases 2 0 0 0 0 0 2
RP1-related retinal dystrophy 0 0 2 0 0 0 2
Ductal breast carcinoma 0 0 1 0 0 0 1
Hypertriglyceridemia, susceptibility to 0 0 0 0 1 0 1
Leber congenital amaurosis 1 0 0 1 0 0 0 1
Leber hereditary optic neuropathy 0 0 1 0 0 0 1
Visual impairment; Retinal dystrophy; Retinal pigment epithelial atrophy 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 40
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 64 1 260 73 16 0 414
Illumina Clinical Services Laboratory,Illumina 0 0 77 16 21 0 114
Blueprint Genetics 9 18 23 0 0 0 50
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 7 0 17 3 10 0 37
CeGaT Praxis fuer Humangenetik Tuebingen 8 3 6 5 0 0 22
GeneDx 3 5 10 1 0 0 19
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 5 7 5 0 17
NIHR Bioresource Rare Diseases, University of Cambridge 5 12 0 0 0 0 17
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 2 9 4 0 0 0 15
Ocular Genomics Institute, Massachusetts Eye and Ear 4 7 0 0 0 0 11
Faculty of Health Sciences,Beirut Arab University 11 0 0 0 0 0 11
Molecular Genetics Laboratory,Institute for Ophthalmic Research 9 0 0 0 0 0 9
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 7 1 0 0 0 0 8
OMIM 6 0 0 0 1 0 7
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 0 5 2 0 0 0 7
Mendelics 5 0 0 0 0 0 5
Department of Ophthalmology and Visual Sciences Kyoto University 0 4 0 1 0 0 5
Human Genetics - Radboudumc,Radboudumc 4 0 0 0 0 0 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 2 0 0 0 3
Sharon lab,Hadassah-Hebrew University Medical Center 3 0 0 0 0 0 3
Ambry Genetics 2 0 0 0 0 0 2
PreventionGenetics, PreventionGenetics 0 0 0 2 0 0 2
Institute of Medical Molecular Genetics, University of Zurich 0 2 0 0 0 0 2
NEI Ophthalmic Genomics Laboratory,National Institutes of Health 0 0 0 0 0 2 2
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 2 0 0 0 0 2
INSERM U1051, Institut des Neurosciences de Montpellier 2 0 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 1 0 0 0 0 2
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 1 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 1 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 0 1
Institute of Human Genetics, Uniklinik RWTH Aachen 0 0 1 0 0 0 1
Genetics Research Center,University of Social Welfare and Rehabilitation Sciences 1 0 0 0 0 0 1
Next Generation Diagnostics,Novartis Institutes for BioMedical Research, Inc. 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 0 0 0 1
Department of Medical Genetics,Gazi University 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 0 0 0 1
Australian Inherited Retinal Disease Registry & DNA Bank,Sir Charles Gairdner Hospital 0 0 1 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 0 0 1 0 0 1

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