ClinVar Miner

Variants studied for early-onset partial cataract

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 total
42 21 335 139 95 610

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
FYCO1 19 3 154 54 74 283
WFS1 15 16 144 66 3 244
VIM 3 0 15 15 12 44
CRYAB 5 1 21 3 6 36
COL12A1 0 1 0 0 0 1
LOC130003452, VIM 0 0 1 0 0 1
LOC130003453, VIM 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Fulgent Genetics, Fulgent Genetics 14 11 154 69 3 251
Illumina Laboratory Services, Illumina 0 0 122 22 65 209
Labcorp Genetics (formerly Invitae), Labcorp 7 0 56 54 60 177
Genome-Nilou Lab 0 0 0 0 15 15
OMIM 14 0 0 0 0 14
Juno Genomics, Hangzhou Juno Genomics, Inc 1 3 4 0 0 8
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 3 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 2 1 0 0 0 3
MGZ Medical Genetics Center 1 0 1 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 0 0 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 2
Baylor Genetics 0 0 1 0 0 1
Revvity Omics, Revvity 1 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 0 1 0 1
Mendelics 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 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 1 0 0 0 1
Laboratory of Molecular Genetics, Yakut Science Centre of Complex Medical Problems 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 1
Discovery DNA Inc 0 1 0 0 0 1
Dr.Nikuei Genetic Center 0 0 0 0 1 1

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