ClinVar Miner

Submissions for variant NM_025136.4(OPA3):c.33G>T (p.Leu11=)

gnomAD frequency: 0.00016  dbSNP: rs148805518
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000353215 SCV000337321 uncertain significance not provided 2018-06-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001426216 SCV001628865 likely benign 3-Methylglutaconic aciduria type 3; Optic atrophy 3 2024-01-09 criteria provided, single submitter clinical testing

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