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
151 82 542 345 85 22 1094

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 98 31 411 301 37 0 865
Leber congenital amaurosis 6 54 17 86 28 12 0 176
not provided 19 9 49 32 63 22 172
Cone-rod dystrophy 13 20 6 83 25 15 2 132
Inborn genetic diseases 0 0 95 6 0 0 101
Retinal dystrophy 9 18 26 2 1 0 55
not specified 0 0 16 15 25 0 50
Leber congenital amaurosis 19 7 1 0 0 0 26
RPGRIP1-related disorder 1 1 0 14 1 0 17
Leber congenital amaurosis 1 3 2 1 0 3 0 9
Retinitis pigmentosa 3 4 0 0 0 0 7
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
Optic atrophy 0 0 2 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: 70
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 95 17 406 300 37 0 855
Ambry Genetics 0 0 95 6 0 0 101
Illumina Laboratory Services, Illumina 0 0 66 10 14 0 85
GeneDx 5 3 8 7 54 0 77
Genome-Nilou Lab 15 4 33 21 3 0 76
Eurofins Ntd Llc (ga) 5 0 24 2 11 0 42
Breakthrough Genomics, Breakthrough Genomics 2 0 5 14 21 0 42
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg 8 3 24 2 1 0 38
CeGaT Center for Human Genetics Tuebingen 8 3 9 12 1 0 33
Laboratory of Genetics in Ophthalmology, Institut Imagine 28 3 1 0 0 0 32
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 7 3 12 8 0 0 30
PreventionGenetics, part of Exact Sciences 1 1 0 15 12 0 29
Fulgent Genetics, Fulgent Genetics 9 12 3 1 0 0 25
Retina International 0 0 0 0 0 21 21
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 5 3 9 0 17
Department of Pathology and Laboratory Medicine, Sinai Health System 2 4 7 1 2 0 16
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 1 6 8 0 16
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 Center for Mendelian Genomics, Broad Institute of MIT and Harvard 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 3 1 4 0 0 0 8
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 3 3 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
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 3 0 0 0 0 5
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
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel 2 2 0 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
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
SingHealth Duke-NUS Institute of Precision Medicine 0 2 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 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
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
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 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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