ClinVar Miner

Variants in gene RP1L1

Minimum submission review status: Collection method:
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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 risk factor not provided total
18 39 734 340 275 1 1 1197

Condition and significance breakdown #

Total conditions: 15
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
not provided 4 10 311 199 58 0 0 552
Occult macular dystrophy 1 2 129 63 247 1 0 437
Retinal dystrophy 3 16 151 41 31 0 0 241
Inborn genetic diseases 0 0 204 31 0 0 0 235
not specified 0 0 4 1 62 0 0 67
RP1L1-related condition 1 2 4 42 10 0 0 59
Retinitis pigmentosa 88 12 6 5 0 20 0 0 42
Occult macular dystrophy; Retinitis pigmentosa 88 0 1 3 7 3 0 0 14
Autosomal recessive retinitis pigmentosa 2 0 0 0 0 0 0 2
Retinitis pigmentosa 0 2 0 0 0 0 0 2
Abnormal esophagus morphology 0 0 0 1 0 0 0 1
Epidermolysis bullosa simplex with nail dystrophy 0 0 1 0 0 0 0 1
Macular dystrophy 0 0 1 0 0 0 0 1
Stargardt disease 0 0 0 0 0 0 1 1
Ulnar/fibula ray defect-brachydactyly syndrome 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 50
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Illumina Laboratory Services, Illumina 0 0 119 58 246 0 0 423
Invitae 1 0 200 103 29 0 0 333
Ambry Genetics 0 0 204 31 0 0 0 235
Dept Of Ophthalmology, Nagoya University 0 10 130 41 31 0 0 212
CeGaT Center for Human Genetics Tuebingen 1 3 56 69 4 0 0 133
GeneDx 1 3 47 2 25 0 0 78
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 1 4 47 11 0 0 63
PreventionGenetics, part of Exact Sciences 1 2 4 42 10 0 0 59
Clinical Genetics, Academic Medical Center 1 0 3 9 45 0 0 58
Blueprint Genetics 3 6 21 0 0 0 0 30
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 1 3 2 19 0 0 25
Genome-Nilou Lab 0 0 0 0 20 0 0 20
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 17 0 0 17
Fulgent Genetics, Fulgent Genetics 0 1 4 7 3 0 0 15
Mendelics 0 0 3 6 3 0 0 12
Revvity Omics, Revvity 0 3 7 0 0 0 0 10
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 8 1 1 0 0 10
OMIM 6 0 1 0 0 1 0 8
Eurofins Ntd Llc (ga) 0 1 7 0 0 0 0 8
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 1 4 0 0 0 0 6
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 1 0 0 0 0 0 4
DBGen Ocular Genomics 3 1 0 0 0 0 0 4
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center 0 0 0 0 3 0 0 3
Department of Ophthalmology and Visual Sciences Kyoto University 0 2 0 1 0 0 0 3
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 3 0 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 1 0 1 0 0 2
MGZ Medical Genetics Center 0 1 1 0 0 0 0 2
Institute of Medical Molecular Genetics, University of Zurich 0 2 0 0 0 0 0 2
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 2 0 0 0 0 2
Faculty of Health Sciences, Beirut Arab University 2 0 0 0 0 0 0 2
School of Computer Science, University of Waterloo 2 0 0 0 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 1 1 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 1 0 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 0 1
Clinical Genetics, Erasmus University Medical Center 0 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 0 1 0 0 1
Department of Molecular Biology and Genetics, Istanbul Technical University 0 0 1 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 0 0 0 1
3billion 0 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 0 0 1

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