ClinVar Miner

Submissions for variant NM_025136.4(OPA3):c.322_339del (p.Gln108_Glu113del)

dbSNP: rs80356526
Minimum review status: Collection method:
Minimum conflict level:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000004464 SCV000041514 not provided 3-Methylglutaconic aciduria type 3 no classification provided literature only Found in an individual of Turkish-Kurdish origin with Costeff syndrome
OMIM RCV000004464 SCV000024637 pathogenic 3-Methylglutaconic aciduria type 3 2002-07-01 no assertion criteria provided literature only

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