ClinVar Miner

Submissions for variant NM_025136.4(OPA3):c.*6104_*6105del

dbSNP: rs142661638
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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 RCV000292509 SCV000413660 likely benign 3-Methylglutaconic aciduria type 3 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000333486 SCV000413661 likely benign Optic Atrophy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001785573 SCV002028072 likely benign not provided 2021-05-22 criteria provided, single submitter clinical testing

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