ClinVar Miner

Variants studied for cataract 1 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
32 33 110 23 12 180

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
GJA8 31 33 109 23 12 178
ACP6, BCL9, CHD1L, GJA5, GJA8 1 0 1 0 0 2

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Dept. Genetics and Cancer, Menzies Institute for Medical Research, University of Tasmania 1 23 60 3 0 87
Labcorp Genetics (formerly Invitae), Labcorp 25 5 31 16 3 80
Illumina Laboratory Services, Illumina 0 0 16 7 10 33
OMIM 8 0 0 0 0 8
3billion 2 1 1 0 0 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 2 0 0 3
Revvity Omics, Revvity 1 0 1 0 0 2
SIB Swiss Institute of Bioinformatics 1 1 0 0 0 2
Molecular Medicine, University of Pavia 0 1 1 0 0 2
Baylor Genetics 0 0 1 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 0 1 0 1
Eye Genetics Research Group, Children's Medical Research Institute 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Zheng Lab, Zhongnan Hospital of Wuhan University 1 0 0 0 0 1
Lilac Insights Private Limited 0 0 1 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 0 0 0 1

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