ClinVar Miner

Variants studied for Leber congenital amaurosis 12

Coded as:
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 not provided total
10 0 148 48 18 1 217

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic uncertain significance likely benign benign not provided total
RD3 10 148 48 18 1 217

Submitter and significance breakdown #

Total submitters: 7
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Submitter pathogenic uncertain significance likely benign benign not provided total
Invitae 6 66 40 11 0 123
Illumina Laboratory Services, Illumina 0 87 8 9 0 104
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 2 0 4 0 6
OMIM 5 0 0 0 0 5
Laboratory of Genetics in Ophthalmology, Institut Imagine 2 0 0 0 0 2
GeneReviews 0 0 0 0 1 1
Fulgent Genetics, Fulgent Genetics 0 1 0 0 0 1

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