ClinVar Miner

Submissions for variant NM_025136.4(OPA3):c.537A>G (p.Lys179=)

gnomAD frequency: 0.00158  dbSNP: rs140105522
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704316 SCV000527867 likely benign not provided 2021-03-18 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000419984 SCV000854800 likely benign not specified 2018-01-25 criteria provided, single submitter clinical testing
Invitae RCV000974697 SCV001122541 benign 3-Methylglutaconic aciduria type 3; Optic atrophy 3 2024-01-29 criteria provided, single submitter clinical testing

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