ClinVar Miner

Variants studied for Renal dysplasia and retinal aplasia

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 total
1 0 223 32 14 270

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic uncertain significance likely benign benign total
NPHP4 0 81 17 2 100
CEP290 0 68 7 4 79
IQCB1 1 23 3 4 31
SDCCAG8 0 21 1 3 25
NPHP1 0 20 3 1 24
AKT3, SDCCAG8 0 6 0 0 6
C12orf29, CEP290 0 4 1 0 5

Submitter and significance breakdown #

Total submitters: 2
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Submitter pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 223 32 14 269
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 1 0 0 0 1

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