ClinVar Miner

Variants studied for age related macular degeneration, susceptibility to

Included ClinVar conditions (8):
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 risk factor total
14 7 149 56 15 4 245

Gene and significance breakdown #

Total genes and gene combinations: 9
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
ERCC6 7 0 96 29 13 0 145
CFI 5 3 27 21 0 2 58
C9 0 4 6 1 0 1 12
ERCC6, PGBD3 1 0 5 3 0 0 9
ERCC6, LOC126860933 1 0 3 1 2 0 7
ERCC6, LOC130003806 0 0 5 1 0 0 6
ERCC6, ERCC6-PGBD3 0 0 4 0 0 0 4
ERCC6, ERCC6-PGBD3, PGBD3 0 0 3 0 0 0 3
ERCC6, LOC130003807 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 5
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Illumina Laboratory Services, Illumina 0 0 104 32 15 0 151
Fulgent Genetics, Fulgent Genetics 14 6 46 23 0 0 89
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 5 1 0 0 7
OMIM 0 0 0 0 0 4 4
Prabudh Goel Research Team, All India Institute Medical Sciences, New Delhi 0 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.