ClinVar Miner

Submissions for variant NM_001017989.3(OPA3):c.143-24183C>T (rs28937899)

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Total submissions: 2
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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.

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