ClinVar Miner

Submissions for variant NM_025136.4(OPA3):c.*986del

dbSNP: rs377547137
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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 RCV000351099 SCV000413850 benign 3-Methylglutaconic aciduria type 3 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000387008 SCV000413851 benign Optic Atrophy, Dominant 2016-06-14 criteria provided, single submitter clinical testing

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