ClinVar Miner

Submissions for variant NM_025136.4(OPA3):c.*4696ATAA[9]

dbSNP: rs58537694
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000263679 SCV000413714 uncertain significance Optic Atrophy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000304484 SCV000413715 uncertain significance 3-Methylglutaconic aciduria type 3 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000263679 SCV000413720 uncertain significance Optic Atrophy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000304484 SCV000413721 uncertain significance 3-Methylglutaconic aciduria type 3 2016-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004694435 SCV005194682 uncertain significance not provided criteria provided, single submitter not provided

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