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
10 18 312 172 93 7 524

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 4 12 196 17 33 3 259
3-Methylglutaconic aciduria type 3; Optic atrophy 3 6 2 98 130 5 1 242
Optic atrophy 3 2 1 113 1 76 2 193
not provided 3 2 25 37 21 0 86
Optic Atrophy, Dominant 0 0 14 3 6 0 22
not specified 0 0 2 10 2 0 13
Inborn genetic diseases 0 0 8 1 0 0 9
OPA3-related condition 0 0 5 3 0 0 8
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: 36
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 6 2 96 130 5 0 239
Illumina Laboratory Services, Illumina 0 0 163 16 81 0 209
GeneDx 2 0 18 37 20 0 77
Counsyl 0 5 26 0 0 0 31
CeGaT Center for Human Genetics Tuebingen 2 0 4 5 1 0 12
Baylor Genetics 1 6 3 0 0 0 10
Ambry Genetics 0 0 8 1 0 0 9
PreventionGenetics, part of Exact Sciences 0 0 5 3 1 0 9
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
Fulgent Genetics, Fulgent Genetics 1 0 3 1 0 0 5
Clinical Genetics, Academic Medical Center 0 0 1 1 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 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
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
Mayo Clinic Laboratories, Mayo Clinic 0 0 0 0 1 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
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
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 Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 1 0 0 0 1
DBGen Ocular Genomics 0 1 0 0 0 0 1

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