ClinVar Miner

Variants studied for early-onset zonular 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
49 50 506 129 83 795

Gene and significance breakdown #

Total genes and gene combinations: 5
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
WFS1 21 43 325 69 3 461
FYCO1 23 4 159 57 74 296
CRYAB 5 1 22 3 6 36
COL12A1 0 1 0 0 0 1
MYH9 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 22
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Fulgent Genetics, Fulgent Genetics 20 39 336 72 3 470
Illumina Laboratory Services, Illumina 0 0 122 22 65 209
Labcorp Genetics (formerly Invitae), Labcorp 11 1 49 41 50 152
Genome-Nilou Lab 0 0 0 0 14 14
OMIM 11 0 0 0 0 11
Juno Genomics, Hangzhou Juno Genomics, Inc 1 3 4 0 0 8
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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 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
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 1
Molecular Medicine Center, Medical University of Sofia 0 1 0 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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.