ClinVar Miner

Submissions for variant NM_025136.4(OPA3):c.*4919_*4921del

gnomAD frequency: 0.00001  dbSNP: rs886054514
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000266748 SCV000413700 uncertain significance Optic Atrophy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000324268 SCV000413701 uncertain significance 3-Methylglutaconic aciduria type 3 2016-06-14 criteria provided, single submitter clinical testing

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