ClinVar Miner

Variants studied for Retinitis pigmentosa 12; Leber congenital amaurosis 8

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
290 82 421 716 31 1 1540

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CRB1 288 82 421 716 31 1 1538
ASPM, CFHR2, CFHR5, CRB1, DENND1B, F13B, ZBTB41 1 0 0 0 0 0 1
ASPM, CRB1, ZBTB41 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 2
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 290 82 421 716 31 0 1540
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1

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