ClinVar Miner

Variants studied for exudative vitreoretinopathy 1

Included ClinVar conditions (6):
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 not provided total
19 11 227 98 55 2 406

Gene and significance breakdown #

Total genes and gene combinations: 11
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
LRP5 4 4 153 91 4 1 256
FZD4, PRSS23 9 7 61 4 45 0 123
FZD4 2 0 3 3 4 0 10
ZNF408 0 0 5 0 0 0 5
FZD4, LOC130006562 0 0 3 0 1 0 4
CTNNB1 2 0 0 0 0 0 2
LOC130005659, ZNF408 0 0 2 0 0 0 2
CCDC81, CCDC83, CCDC89, CREBZF, DLG2, EED, FZD4, HIKESHI, ME3, PICALM, PRSS23, SYTL2, TMEM126A, TMEM126B, TMEM135 1 0 0 0 0 0 1
CTNNB1, LOC126806659 1 0 0 0 0 0 1
FZD4, LOC130006561 0 0 0 0 1 0 1
KIF11 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fulgent Genetics, Fulgent Genetics 3 3 153 92 4 0 255
Illumina Laboratory Services, Illumina 0 0 60 5 50 0 115
Hyderabad Eye Research Foundation, L V Prasad Eye Institute 0 0 7 0 0 0 7
OMIM 6 0 0 0 0 0 6
Department of Ophthalmology, California Pacific Medical Center 1 3 0 0 0 0 4
3billion 0 2 2 0 0 0 4
Revvity Omics, Revvity 2 0 1 0 0 0 3
Leeds Vision Research Group, University of Leeds 3 0 0 0 0 0 3
Mendelics 1 0 0 0 1 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 1 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 0 1
Genetics Department, University Hospital of Toulouse 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 0 1 0 1
DBGen Ocular Genomics 1 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Laboratorio De Medicina Genomica, Universidad Icesi 0 1 0 0 0 0 1

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