ClinVar Miner

Variants in gene OPA3

Minimum submission review status: Collection method:
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Gene type:
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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
10 12 219 61 85 1 328

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
3-Methylglutaconic aciduria type 3 4 8 197 18 34 0 258
Optic atrophy 3 2 1 113 1 78 0 195
3-Methylglutaconic aciduria type 3; Optic atrophy 3 5 3 9 30 2 1 50
Optic Atrophy, Dominant 0 0 15 3 6 0 23
not provided 3 1 9 10 1 0 23
not specified 0 0 3 11 3 0 16
Foveal hypoplasia 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 165 17 84 0 214
Invitae 5 3 9 33 2 0 52
Counsyl 0 6 29 0 0 0 35
GeneDx 1 1 7 12 1 0 22
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 3 1 3 0 7
OMIM 6 0 0 0 0 0 6
Natera, Inc. 1 1 2 1 1 0 6
GeneReviews 5 0 0 0 1 0 6
CeGaT Praxis fuer Humangenetik Tuebingen 2 0 2 1 0 0 5
Baylor Genetics 0 0 3 0 0 0 3
Genetic Services Laboratory, University of Chicago 0 0 0 1 0 0 1
PreventionGenetics, PreventionGenetics 0 0 0 0 1 0 1
Institute of Medical Molecular Genetics, University of Zurich 0 0 1 0 0 0 1
Mendelics 0 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 0 0 1 0 1
Institute of Human Genetics, Klinikum rechts der Isar 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 0 1
Kasturba Medical College, Manipal University 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Myriad Women's Health, Inc. 1 0 0 0 0 0 1

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