ClinVar Miner

Submissions for variant NM_025136.4(OPA3):c.237G>C (p.Leu79=)

gnomAD frequency: 0.00001  dbSNP: rs943536843
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000975927 SCV001123820 likely benign 3-Methylglutaconic aciduria type 3; Optic atrophy 3 2024-04-17 criteria provided, single submitter clinical testing

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