ClinVar Miner

Submissions for variant NM_130837.3(OPA1):c.2013-10_2013-8del

dbSNP: rs781060459
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001768220 SCV002008692 uncertain significance not provided 2020-03-08 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Labcorp Genetics (formerly Invitae), Labcorp RCV001768220 SCV005704199 likely benign not provided 2024-11-07 criteria provided, single submitter clinical testing

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