ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.3649C>G (p.Leu1217Val)

dbSNP: rs886042839
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000351681 SCV000336854 uncertain significance not provided 2015-11-24 criteria provided, single submitter clinical testing
GeneDx RCV000351681 SCV001785332 likely benign not provided 2019-06-03 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Revvity Omics, Revvity RCV000351681 SCV004234351 uncertain significance not provided 2023-02-07 criteria provided, single submitter clinical testing

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