ClinVar Miner

Variants studied for cataract 14 multiple types

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
15 11 91 8 43 162

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
GJA3 15 11 90 8 43 161
CRYL1, EEF1AKMT1, GJA3, GJB2, GJB6, IFT88, IL17D, XPO4 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 12
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 61 2 39 102
Invitae 5 4 30 6 11 56
OMIM 9 0 0 0 0 9
Genomics England Pilot Project, Genomics England 0 3 0 0 0 3
Fulgent Genetics, Fulgent Genetics 0 0 0 1 0 1
Laboratory of NeuroGenetics and Regenerative Medicine, University of Maryland School of Medicine 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
New York Genome Center 0 1 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 1 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 1 0 0 0 1

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