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 7 148 56 15 4 244

Gene and significance breakdown #

Total genes and gene combinations: 9
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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 5 1 0 1 11
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: 4
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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

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