ClinVar Miner

Submissions for variant NM_025136.4(OPA3):c.*4850_*4852del

dbSNP: rs144752998
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000392404 SCV000413708 benign 3-Methylglutaconic aciduria type 3 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000314705 SCV000413709 benign Optic Atrophy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001653600 SCV001866074 benign not provided 2021-05-13 criteria provided, single submitter clinical testing

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