ClinVar Miner

Submissions for variant NM_000170.3(GLDC):c.862-12C>G

gnomAD frequency: 0.00001  dbSNP: rs767628262
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001754035 SCV001986985 uncertain significance not provided 2019-07-02 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, suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.

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