ClinVar Miner

Submissions for variant NM_025136.4(OPA3):c.*3111AGC[3]

dbSNP: rs542311224
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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 RCV000377006 SCV000413782 benign Optic Atrophy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000273210 SCV000413783 benign 3-Methylglutaconic aciduria type 3 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001690091 SCV001913034 benign not provided 2021-05-13 criteria provided, single submitter clinical testing

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