ClinVar Miner

Variants studied for Vitreoretinopathy

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 total
3 1 45 70 40 159

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
VCAN 0 0 43 70 40 153
ABCA4 2 0 0 0 0 2
C10orf105, CDH23 0 0 1 0 0 1
CDH23 0 0 1 0 0 1
LRP5 0 1 0 0 0 1
TSPAN12 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 4
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 43 70 40 153
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 2 0 2 0 0 4
Institute of Human Genetics,University of Wuerzburg 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 0 0 0 1

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