ClinVar Miner

Variants studied for Exudative vitreoretinopathy 1

Coded as:
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 total
17 8 74 7 51 152

Gene and significance breakdown #

Total genes and gene combinations: 10
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
FZD4, PRSS23 9 7 61 4 45 123
FZD4 2 0 3 3 4 10
ZNF408 0 0 5 0 0 5
FZD4, LOC130006562 0 0 3 0 1 4
LRP5 2 1 0 0 0 3
CTNNB1 2 0 0 0 0 2
LOC130005659, ZNF408 0 0 2 0 0 2
CCDC81, CCDC83, CCDC89, CREBZF, DLG2, EED, FZD4, HIKESHI, ME3, PICALM, PRSS23, SYTL2, TMEM126A, TMEM126B, TMEM135 1 0 0 0 0 1
CTNNB1, LOC126806659 1 0 0 0 0 1
FZD4, LOC130006561 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 60 5 50 115
Hyderabad Eye Research Foundation, L V Prasad Eye Institute 0 0 7 0 0 7
OMIM 5 0 0 0 0 5
Department of Ophthalmology, California Pacific Medical Center 1 3 0 0 0 4
3billion, Medical Genetics 0 2 2 0 0 4
Revvity Omics, Revvity 2 0 1 0 0 3
Leeds Vision Research Group, University of Leeds 3 0 0 0 0 3
Mendelics 1 0 0 0 1 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 0 2
Fulgent Genetics, Fulgent Genetics 1 0 0 1 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 1 0 2
Baylor Genetics 0 0 1 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 1 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 1
Genetics Department, University Hospital of Toulouse 0 0 1 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 0 1 1
DBGen Ocular Genomics 1 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 1
Laboratorio De Medicina Genomica, Universidad Icesi 0 1 0 0 0 1

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