ClinVar Miner

Submissions for variant NM_025136.4(OPA3):c.*4026del

dbSNP: rs879119658
Minimum review status: Collection method:
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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 RCV000320603 SCV000413744 uncertain significance Optic Atrophy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000377516 SCV000413745 uncertain significance 3-Methylglutaconic aciduria type 3 2016-06-14 criteria provided, single submitter clinical testing

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