ClinVar Miner

Submissions for variant NM_025136.4(OPA3):c.194del (p.Gly65fs)

dbSNP: rs2122440638
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001782550 SCV002020187 likely pathogenic not provided 2021-08-04 criteria provided, single submitter clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003992551 SCV004809397 likely pathogenic 3-Methylglutaconic aciduria type 3 2024-04-04 criteria provided, single submitter clinical testing

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