ClinVar Miner

Variants studied for cataract 21 multiple types

Included ClinVar conditions (2):
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
9 6 24 32 13 83

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
MAF 8 6 24 32 13 82
DYNLRB2, LINC01227, LINC01228, LINC01229, LOC101928230, LOC110120569, LOC110120570, LOC111365156, LOC111365213, LOC111429607, LOC112486209, LOC121587563, LOC121587564, LOC121587565, LOC125177356, LOC125177357, LOC126862412, LOC126862413, LOC126862414, LOC126862415, LOC129390812, LOC130059460, LOC130059461, LOC130059462, LOC130059463, LOC130059464, LOC130059465, LOC130059466, LOC130059467, LOC130059468, LOC130059469, LOC130059470, LOC130059471, LOC130059472, LOC130059473, LOC130059474, LOC130059475, LOC130059476, LOC130059477, LOC130059478, LOC132090431, LOC132090432, LOC132090433, LOC132090434, LOC132090435, MAF, MAFTRR, WWOX 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 5 3 21 31 12 72
OMIM 4 0 0 0 0 4
Fulgent Genetics, Fulgent Genetics 0 0 0 3 0 3
Molecular Medicine, University of Pavia 0 2 0 0 0 2
MGZ Medical Genetics Center 0 0 1 0 0 1
Mendelics 0 0 0 1 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1
Solve-RD Consortium 0 1 0 0 0 1

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