ClinVar Miner

Submissions for variant NM_001017989.3(OPA3):c.143-16812G>A

gnomAD frequency: 0.00233  dbSNP: rs192699227
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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 RCV000291467 SCV000483736 uncertain significance Optic Atrophy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000348691 SCV000483737 uncertain significance 3-Methylglutaconic aciduria type 3 2016-06-14 criteria provided, single submitter clinical testing

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