ClinVar Miner

Submissions for variant NM_001017989.3(OPA3):c.184G>A (p.Gly62Ser) (rs140959406)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000900236 SCV000252024 uncertain significance not provided 2020-12-07 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Located in alternate transcript of the OPA3 gene; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect
Invitae RCV000900236 SCV001044540 likely benign not provided 2018-11-07 criteria provided, single submitter clinical testing
Mendelics RCV000990232 SCV001141106 uncertain significance 3-Methylglutaconic aciduria type 3 2019-05-28 criteria provided, single submitter clinical testing
Baylor Genetics RCV000990232 SCV001527580 uncertain significance 3-Methylglutaconic aciduria type 3 2018-07-30 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV001424271 SCV001626866 likely benign 3-Methylglutaconic aciduria type 3; Optic atrophy 3 2020-08-26 criteria provided, single submitter clinical testing
Clinical Genetics,Academic Medical Center RCV000900236 SCV001925733 likely benign not provided no assertion criteria provided clinical testing

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