ClinVar Miner

Submissions for variant NM_025136.4(OPA3):c.249G>C (p.Leu83=)

gnomAD frequency: 0.00080  dbSNP: rs199692583
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000938671 SCV001084489 likely benign 3-Methylglutaconic aciduria type 3; Optic atrophy 3 2025-01-27 criteria provided, single submitter clinical testing
GeneDx RCV001555569 SCV001777010 likely benign not provided 2019-07-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV001273314 SCV001456218 likely benign 3-Methylglutaconic aciduria type 3 2020-06-17 no assertion criteria provided clinical testing

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