ClinVar Miner

Variants in gene RP1L1

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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
15 18 219 90 253 1 1 538

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Occult macular dystrophy 1 1 125 63 246 1 0 433
not provided 4 5 76 30 19 0 0 125
Retinal dystrophy 3 6 21 0 0 0 0 30
Retinitis pigmentosa 88 8 3 4 0 0 0 0 15
not specified 0 0 1 0 2 0 0 3
Autosomal recessive retinitis pigmentosa 2 0 0 0 0 0 0 2
Retinitis pigmentosa 0 2 0 0 0 0 0 2
Abnormality of esophagus morphology 0 0 0 1 0 0 0 1
Epidermolysis bullosa simplex with nail dystrophy 0 0 1 0 0 0 0 1
Stargardt disease 0 0 0 0 0 0 1 1
Ulnar/fibular ray defect and brachydactyly 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 119 58 246 0 0 423
CeGaT Praxis fuer Humangenetik Tuebingen 2 1 53 15 0 0 0 71
Invitae 1 0 12 13 16 0 0 42
Blueprint Genetics 3 6 21 0 0 0 0 30
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
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 1 7 0 0 0 0 8
GeneDx 0 3 4 0 0 0 0 7
Mendelics 0 0 1 5 1 0 0 7
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 1 4 0 0 0 0 6
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 1 0 0 0 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 1 0 1 0 0 2
Institute of Medical Molecular Genetics, University of Zurich 0 2 0 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
Fulgent Genetics,Fulgent Genetics 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
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 0 0 1
Department of Molecular Biology and Genetics,Istanbul Technical University 0 0 1 0 0 0 0 1

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