ClinVar Miner

Submissions for variant NM_025136.4(OPA3):c.252G>T (p.Leu84=)

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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 RCV003817930 SCV004607391 likely benign 3-Methylglutaconic aciduria type 3; Optic atrophy 3 2023-10-12 criteria provided, single submitter clinical testing

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