ClinVar Miner

Variants studied for cataract 36

Included ClinVar conditions (1):
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
6 2 79 18 18 115

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 total
TDRD7 6 2 68 17 16 101
LOC124310607, TDRD7 0 0 7 0 1 8
LOC126860694, TDRD7 0 0 4 1 1 6

Submitter and significance breakdown #

Total submitters: 10
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 59 2 10 71
Invitae 0 0 22 17 17 56
OMIM 2 0 0 0 0 2
Institute of Reproductive and Stem Cell Engineering, Central South University 2 0 0 0 0 2
Molecular Medicine, University of Pavia 1 0 1 0 0 2
Genome-Nilou Lab 0 0 0 0 2 2
Baylor Genetics 0 0 1 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 0 0 0 1
Suma Genomics 1 0 0 0 0 1

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