ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.408C>A (p.Asp136Glu)

dbSNP: rs879253923
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000236161 SCV000292816 uncertain significance not provided 2020-08-31 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function

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