ClinVar Miner

Submissions for variant NM_001017989.3(OPA3):c.343C>T (p.Arg115Ter) (rs762247018)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670984 SCV000795916 uncertain significance 3-Methylglutaconic aciduria type 3 2017-11-30 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001198694 SCV001369689 uncertain significance Micrognathia; Nystagmus; Abnormal facial shape; Bulbous nose; Strabismus; Abnormal electroretinogram; Abnormality of visual evoked potentials; Pectus carinatum; Scaphocephaly 2019-12-11 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence favors the benign nature of this variant, however the evidence is insufficent to prove its benign nature. The following ACMG criteria were applied in classifying this variant: No criteria apply. This variant was detected in heterozygous state.

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