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
137 64 511 305 85 22 1004

Condition and significance breakdown #

Total conditions: 21
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Cone-rod dystrophy 13; Leber congenital amaurosis 6 87 15 403 269 37 0 808
Leber congenital amaurosis 6 53 13 86 28 12 0 171
not provided 18 9 47 20 58 22 162
Cone-rod dystrophy 13 19 5 83 25 15 2 130
Inborn genetic diseases 0 0 51 2 0 0 53
not specified 0 0 13 15 25 0 47
Leber congenital amaurosis 16 8 1 0 0 0 24
Retinal dystrophy 2 14 3 0 0 0 19
Leber congenital amaurosis 1 3 2 1 0 3 0 9
Retinitis pigmentosa 3 4 0 0 0 0 7
RPGRIP1L-Related Disorders 0 0 5 0 0 0 5
Cone-rod dystrophy 3 0 0 0 0 0 3
Anophthalmia-microphthalmia syndrome 0 0 0 2 0 0 2
Bardet-Biedl syndrome 0 0 2 0 0 0 2
Cone dystrophy 2 0 0 0 0 0 2
RPGRIP1-related condition 1 1 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
Joubert syndrome 7 0 0 1 0 0 0 1
Microcephaly 0 0 1 0 0 0 1
Visual impairment; Retinal dystrophy; Color vision defect; Horizontal nystagmus 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 65
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 86 15 401 269 37 0 808
Illumina Laboratory Services, Illumina 0 0 71 10 14 0 90
GeneDx 4 3 8 7 54 0 76
Genome-Nilou Lab 15 4 33 21 3 0 76
Ambry Genetics 0 0 51 2 0 0 53
Eurofins Ntd Llc (ga) 5 0 24 2 11 0 42
Laboratory of Genetics in Ophthalmology, Institut Imagine 28 3 1 0 0 0 32
CeGaT Center for Human Genetics Tuebingen 6 3 9 7 2 0 27
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 4 9 8 0 0 24
Retina International 0 0 0 0 0 21 21
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 5 3 9 0 17
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 1 6 8 0 16
Preventiongenetics, part of Exact Sciences 1 1 0 1 11 0 14
Clinical Genetics, Academic Medical Center 1 1 1 3 7 0 13
Blueprint Genetics 2 8 3 0 0 0 13
Mendelics 3 2 3 0 3 0 11
Broad Institute Rare Disease Group, Broad Institute 4 4 2 0 0 0 10
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 4 1 0 0 4 0 9
OMIM 8 0 0 0 0 0 8
Molecular Genetics Laboratory, Institute for Ophthalmic Research 8 0 0 0 0 0 8
Revvity Omics, Revvity Omics 3 1 4 0 0 0 8
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 3 3 0 6
Fulgent Genetics, Fulgent Genetics 2 0 3 1 0 0 6
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
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 4 0 4
3billion 3 0 1 0 0 0 4
Baylor Genetics 2 0 1 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 3 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
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel 2 1 0 0 0 0 3
DBGen Ocular Genomics 1 1 1 0 0 0 3
GeneReviews 0 0 0 0 0 2 2
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation 0 0 2 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
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
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 0 0 0 0 0 1
MGZ Medical Genetics Center 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
Department Of Translational Genomics (developmental Genetics Section), 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
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 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
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 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
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 0 0 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 0 0 0 1
Rare Diseases Genetics and Genomics, Islamia College Peshawar 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 0 1

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