ClinVar Miner

Variants studied for Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy

Coded as:
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 8 4 0 4 1 27

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign not provided total
OPA1 9 8 3 4 1 24
LOC126806913, OPA1 2 0 1 0 0 3

Submitter and significance breakdown #

Total submitters: 13
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Submitter pathogenic likely pathogenic uncertain significance benign not provided total
OMIM 8 0 0 0 0 8
Genome-Nilou Lab 0 0 0 4 0 4
Genomics England Pilot Project, Genomics England 1 3 0 0 0 4
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 2 0 0 2
WangQJ Lab, Chinese People's Liberation Army General Hospital 0 2 0 0 0 2
Baylor Genetics 0 1 0 0 0 1
Mendelics 0 1 0 0 0 1
GeneReviews 0 0 0 0 1 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 1
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 0 0 1 0 0 1

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