ClinVar Miner

Submissions for variant NM_025136.4(OPA3):c.32T>A (p.Leu11Gln)

dbSNP: rs1969907819
Minimum review status: Collection method:
Minimum conflict level:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV001175256 SCV001338839 pathogenic 3-Methylglutaconic aciduria type 3 2020-06-16 no assertion criteria provided literature only

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