ClinVar Miner

Submissions for variant NM_025136.3(OPA3):c.-48_-41delCGCCCCGC

dbSNP: rs886054542
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000311242 SCV000413898 uncertain significance Optic Atrophy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000368220 SCV000413899 uncertain significance 3-Methylglutaconic aciduria type 3 2016-06-14 criteria provided, single submitter clinical testing
Counsyl RCV000368220 SCV000794366 uncertain significance 3-Methylglutaconic aciduria type 3 2017-10-06 criteria provided, single submitter clinical testing

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