ClinVar Miner

Variants in gene OPA3

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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 not provided total
6 9 117 67 17 1 212

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
3-Methylglutaconic aciduria type 3 3 7 105 53 15 0 181
Optic Atrophy, Dominant 0 0 77 53 15 0 144
not specified 0 0 2 11 3 0 15
not provided 1 1 7 3 1 0 12
3-Methylglutaconic aciduria type 3; Optic atrophy and cataract, autosomal dominant 2 0 3 1 0 1 7
Optic atrophy and cataract, autosomal dominant 2 1 0 0 1 0 4

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 77 53 15 0 144
Counsyl 1 6 29 0 0 0 36
GeneDx 1 1 7 12 1 0 22
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 3 1 3 0 7
Invitae 2 0 3 1 0 0 6
GeneReviews 5 0 0 0 1 0 6
OMIM 4 0 0 0 0 0 4
Genetic Services Laboratory, University of Chicago 0 0 0 1 0 0 1
PreventionGenetics,PreventionGenetics 0 0 0 0 1 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 0 0 1 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 1
Department of Ophthalmology and Visual Sciences Kyoto University 0 0 0 1 0 0 1
Centre for Molecular Medicine and Therapeutics,University of British Columbia 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1

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