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 total
1 9 137 132 59 1 321

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Occult macular dystrophy 1 1 89 127 56 1 273
not provided 0 5 50 7 3 0 65
Retinitis pigmentosa 0 2 0 0 0 0 2
Abnormality of esophagus morphology 0 0 0 1 0 0 1
Ulnar/fibular ray defect and brachydactyly 0 1 0 0 0 0 1
Variant of unknown significance 0 0 1 0 0 0 1
not specified 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 13
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Illumina Clinical Services Laboratory,Illumina 0 0 85 127 56 0 268
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 42 6 0 0 49
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 1 7 0 0 0 8
GeneDx 0 3 4 0 0 0 7
OMIM 1 0 2 0 0 1 4
Department of Ophthalmology and Visual Sciences Kyoto University 0 2 0 1 0 0 3
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 3 0 0 0 3
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 3 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 0 1 0 1
Fulgent Genetics 0 0 1 0 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 1
Clinical Genetics, Erasmus University Medical Center 0 0 0 1 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 1 0 0 0 0 1

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