ClinVar Miner

Variants studied for Optic atrophy

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
6 1 2 0 0 1 10

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance not provided total
AFG3L2 4 0 0 0 4
OPA1 1 1 0 1 3
AFG3L2, TUBB6 1 0 0 0 1
MT-CO1 0 0 1 0 1
RTN4IP1 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 7
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Submitter pathogenic likely pathogenic uncertain significance not provided total
Neurogenetics, IRCCS Istituto delle Scienze Neurologiche di Bologna 4 0 0 0 4
Center for Neuroscience and Cell Biology, University of Coimbra, Portugal 0 0 1 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 1
GenomeConnect, ClinGen 0 0 0 1 1
Unit of Genetics of Neurodegenerative and Metabolic Disease, Fondazione IRCCS Istituto Neurologico Carlo Besta 1 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 1

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