ClinVar Miner

Variants studied for age related macular degeneration 1

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
1 1 348 80 87 491

Gene and significance breakdown #

Total genes and gene combinations: 6
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
HMCN1 1 0 340 70 85 470
APOE 0 1 3 3 0 7
CFHR3 0 0 1 4 2 7
HMCN1, LOC129388665 0 0 1 3 0 4
HMCN1, LOC126805953 0 0 2 0 0 2
CFHR1 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 7
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 264 66 59 389
Genome-Nilou Lab 0 0 147 46 81 274
Fulgent Genetics, Fulgent Genetics 0 1 6 12 2 21
Mendelics 0 0 1 0 3 4
OMIM 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 0 1 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 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.