ClinVar Miner

Submissions for variant NM_001017989.3(OPA3):c.535delinsAA (p.Glu179fs)

dbSNP: rs1555730141
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664447 SCV000788411 uncertain significance 3-Methylglutaconic aciduria type 3 2017-04-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002485517 SCV002787459 uncertain significance 3-Methylglutaconic aciduria type 3; Optic atrophy 3 2022-01-31 criteria provided, single submitter clinical testing

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