ClinVar Miner

Submissions for variant NM_025136.4(OPA3):c.415C>T (p.Gln139Ter) (rs28937899)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000020909 SCV000789568 likely pathogenic 3-Methylglutaconic aciduria type 3 2017-02-15 criteria provided, single submitter clinical testing
GeneReviews RCV000020909 SCV000041515 pathologic 3-Methylglutaconic aciduria type 3 2009-03-31 no assertion criteria provided curation Converted during submission to Pathogenic.
OMIM RCV000020909 SCV001338840 pathogenic 3-Methylglutaconic aciduria type 3 2008-12-01 no assertion criteria provided literature only

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