ClinVar Miner

Variants in gene OPA3

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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 not provided total
11 24 338 176 93 7 557

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
3-Methylglutaconic aciduria type 3; Optic atrophy 3 7 7 119 132 5 1 270
3-Methylglutaconic aciduria type 3 4 14 197 17 33 3 262
Optic atrophy 3 2 1 113 1 76 2 193
not provided 3 2 36 42 34 0 112
Optic Atrophy, Dominant 0 0 14 3 6 0 22
Inborn genetic diseases 0 0 14 1 0 0 15
not specified 0 0 2 10 2 0 13
OPA3-related disorder 0 0 5 6 0 0 11
Achromatopsia 0 1 0 0 0 0 1
Optic atrophy 3; 3-Methylglutaconic aciduria 0 0 0 0 0 1 1
See cases 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 44
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 7 3 115 132 5 0 262
Illumina Laboratory Services, Illumina 0 0 163 16 81 0 209
GeneDx 2 0 23 37 20 0 82
Breakthrough Genomics, Breakthrough Genomics 0 0 4 8 25 0 37
Counsyl 0 5 26 0 0 0 31
Ambry Genetics 0 0 14 1 0 0 15
CeGaT Center for Human Genetics Tuebingen 2 0 6 6 1 0 15
Baylor Genetics 1 8 3 0 0 0 12
PreventionGenetics, part of Exact Sciences 0 0 5 6 1 0 12
Fulgent Genetics, Fulgent Genetics 1 5 3 1 0 0 10
Natera, Inc. 1 0 5 1 2 0 9
OMIM 5 0 0 0 0 0 5
Revvity Omics, Revvity 0 2 3 0 0 0 5
Eurofins Ntd Llc (ga) 0 0 2 1 2 0 5
GeneReviews 0 0 0 0 0 5 5
Mayo Clinic Laboratories, Mayo Clinic 0 0 3 0 1 0 4
Department of Pathology and Laboratory Medicine, Sinai Health System 1 0 3 0 0 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 0 1 0 0 3
Clinical Genetics, Academic Medical Center 0 0 1 1 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 1 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
Suma Genomics 1 0 1 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 1 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 0 0 1 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Mendelics 0 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 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, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Myriad Genetics, Inc. 1 0 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 1 0 0 0 1
Pediatric Department, Xiangya Hospital, Central South University 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
DBGen Ocular Genomics 0 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 1

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