ClinVar Miner

Variants in gene combination C1QTNF5, MFRP

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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
34 19 234 75 19 5 340

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Microphthalmia, isolated 5 23 8 184 34 11 0 252
Late-onset retinal degeneration 2 2 74 11 5 0 93
Retinal degeneration 0 0 53 22 0 0 75
not provided 10 3 42 14 1 5 75
Microphthalmia, isolated 6 0 0 13 7 1 0 21
Retinal dystrophy 2 6 7 0 0 0 15
not specified 0 0 0 3 11 0 14
Nanophthalmos 2 7 0 0 0 0 0 7
MFRP-related disorders 0 0 1 0 0 0 1
Nanophthalmos 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 18 5 137 43 12 0 215
Illumina Clinical Services Laboratory,Illumina 0 1 94 31 6 0 113
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 6 1 13 2 10 0 32
OMIM 11 0 0 0 0 0 11
Blueprint Genetics 2 2 7 0 0 0 11
PreventionGenetics, PreventionGenetics 0 0 0 1 5 0 6
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation 0 0 0 0 0 5 5
GeneDx 2 0 2 0 0 0 4
NIHR Bioresource Rare Diseases, University of Cambridge 0 4 0 0 0 0 4
Baylor Genetics 3 0 0 0 0 0 3
Institute of Medical Molecular Genetics, University of Zurich 3 0 0 0 0 0 3
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 0 2 0 0 0 0 2
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 2 0 0 0 0 2
Broad Institute Rare Disease Group, Broad Institute 0 1 1 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 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
Human Genetics - Radboudumc,Radboudumc 0 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 1 0 0 0 1

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