ClinVar Miner

Variants studied for KIZ-related retinopathy

Included ClinVar conditions (1):
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
4 0 1 3 0 8

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic uncertain significance likely benign total
KIZ 1 0 3 4
KIZ, LOC130065507 2 0 0 2
KIZ, LOC130065509 1 1 0 2

Submitter and significance breakdown #

Total submitters: 7
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Submitter pathogenic uncertain significance likely benign total
Fulgent Genetics, Fulgent Genetics 1 1 3 5
OMIM 3 0 0 3
Revvity Omics, Revvity 1 0 0 1
Ocular Genomics Institute, Massachusetts Eye and Ear 1 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 1
Reproductive Health Research and Development, BGI Genomics 1 0 0 1
Ramesar Group, Division of Human Genetics, Institute of Infectious Diseases and Molecular Medicine, UCT/MRC Genomic and Precision Medicine Research Unit, University of Cape Town 1 0 0 1

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