ClinVar Miner

Submissions for variant NM_001005361.3(DNM2):c.386-5C>G

dbSNP: rs1456914211
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001771292 SCV002002485 uncertain significance not provided 2021-01-15 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); Located in a region that tolerates variation and lacks pathogenic variants; 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.; Has not been previously published as pathogenic or benign to our knowledge

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