ClinVar Miner

Variants from Cytogenetics and Genomics Laboratory,Medical University of South Carolina

Location: United States — Primary collection method: research
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
2 5 6 0 0 13

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
RPE65 2 4 0 6
USH2A 0 0 4 4
ADAMTS18 0 0 2 2
GPHN, RDH12 0 1 0 1

Condition and significance breakdown #

Total conditions: 1
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Condition pathogenic likely pathogenic uncertain significance total
Leber congenital amaurosis 2 5 6 13

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