ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.230T>G (p.Leu77Arg) (rs1595163851)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001549803 SCV001770021 likely pathogenic not provided 2021-05-03 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 24174593, 25676889, 27088055, 25165188, 30962575)
Inherited Neuropathy Consortium RCV000789987 SCV000929376 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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