ClinVar Miner

Variants studied for early-onset nuclear cataract

Included ClinVar conditions (3):
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
34 19 298 120 77 527

Gene and significance breakdown #

Total genes and gene combinations: 2
Download table as spreadsheet
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

Submitter and significance breakdown #

Total submitters: 19
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Fulgent Genetics, Fulgent Genetics 13 11 141 68 3 236
Illumina Laboratory Services, Illumina 0 0 116 20 59 195
Labcorp Genetics (formerly Invitae), Labcorp 7 0 43 38 50 138
Genome-Nilou Lab 0 0 0 0 13 13
Juno Genomics, Hangzhou Juno Genomics, Inc 1 3 4 0 0 8
OMIM 7 0 0 0 0 7
Institute of Human Genetics, University of Leipzig Medical Center 2 1 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 2
Baylor Genetics 0 0 1 0 0 1
Revvity Omics, Revvity 1 0 0 0 0 1
MGZ Medical Genetics Center 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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 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

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.