ClinVar Miner

Variants in gene RPGRIP1

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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
86 46 250 81 31 22 441

Condition and significance breakdown #

Total conditions: 20
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Cone-rod dystrophy 13; Leber congenital amaurosis 6 27 9 168 57 18 0 277
Leber congenital amaurosis 6 46 8 68 9 11 0 139
not provided 10 6 36 14 3 22 89
Cone-rod dystrophy 13 5 1 64 5 14 0 88
not specified 0 0 3 7 20 0 30
Retinal dystrophy 2 14 3 0 0 0 19
Leber congenital amaurosis 11 4 1 0 0 0 16
Leber congenital amaurosis 1 3 2 1 0 3 0 9
none provided 0 0 2 0 5 0 7
RPGRIP1L-Related Disorders 0 0 5 0 0 0 5
Retinitis pigmentosa 3 2 0 0 0 0 5
Anophthalmia-microphthalmia syndrome 0 0 0 2 0 0 2
Cone dystrophy 2 0 0 0 0 0 2
Cone-rod dystrophy 2 0 0 0 0 0 2
Abnormality of the eye 0 1 0 0 0 0 1
Cone-Rod Dystrophy, Recessive 0 0 1 0 0 0 1
Cone-rod degeneration 1 0 0 0 0 0 1
Joubert syndrome 7 0 0 1 0 0 0 1
Microcephaly 0 0 1 0 0 0 1
Visual impairment; Retinal dystrophy; Abnormality of color vision; Horizontal nystagmus 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 44
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 26 9 166 64 19 0 284
Illumina Clinical Services Laboratory,Illumina 0 0 71 10 14 0 90
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 5 0 24 2 11 0 42
Laboratory of Genetics in Ophthalmology,Institut Imagine 28 3 0 0 0 0 31
Retina International 0 0 0 0 0 21 21
CeGaT Praxis fuer Humangenetik Tuebingen 2 3 10 2 0 0 17
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 5 3 8 0 16
GeneDx 3 2 1 4 3 0 13
Blueprint Genetics 2 8 3 0 0 0 13
PreventionGenetics, PreventionGenetics 0 0 0 1 11 0 12
OMIM 9 0 0 0 0 0 9
Mendelics 3 2 1 0 3 0 9
Molecular Genetics Laboratory,Institute for Ophthalmic Research 8 0 0 0 0 0 8
Broad Institute Rare Disease Group, Broad Institute 4 2 2 0 0 0 8
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 0 6 0 0 0 0 6
NIHR Bioresource Rare Diseases, University of Cambridge 0 6 0 0 0 0 6
Sharon lab,Hadassah-Hebrew University Medical Center 4 1 0 0 0 0 5
Molecular Diagnostics Laboratory,Seoul National University Hospital 4 0 0 0 0 0 4
Baylor Genetics 2 0 1 0 0 0 3
Fulgent Genetics,Fulgent Genetics 1 0 2 0 0 0 3
Rui Chen Lab,Baylor College of Medicine 3 0 0 0 0 0 3
Institute of Vision Research, Yonsei University College of Medicine 3 0 0 0 0 0 3
GeneReviews 2 0 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 0 0 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 2 0 0 0 0 0 2
Paul Sabatier University EA-4555, Paul Sabatier University 0 0 0 2 0 0 2
Human Genetics - Radboudumc,Radboudumc 2 0 0 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 1 0 0 0 0 2
Ocular Genomics Institute, Massachusetts Eye and Ear 0 1 1 0 0 0 2
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
NEI Ophthalmic Genomics Laboratory,National Institutes of Health 0 0 0 0 0 1 1
Richard Lifton Laboratory, Yale University School of Medicine 0 0 1 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1
Department of Ophthalmology and Visual Sciences Kyoto University 0 0 0 1 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 1 0 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 0 1 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 1 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 0 1 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 0 0 0 1

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