ClinVar Miner

Variants in gene RP1L1

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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
10 14 198 85 253 1 1 515

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Occult macular dystrophy 1 0 125 63 246 1 0 432
not provided 2 5 59 25 19 0 0 102
Retinal dystrophy 3 6 21 0 0 0 0 30
RETINITIS PIGMENTOSA 88 5 0 0 0 0 0 0 5
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
not specified 0 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 18
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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 51 14 0 0 0 68
Blueprint Genetics 3 6 21 0 0 0 0 30
Invitae 0 0 0 10 16 0 0 26
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
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
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 0 0 0 1 0 0 1
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
Department of Molecular Biology and Genetics,Istanbul Technical University 0 0 1 0 0 0 0 1

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