ClinVar Miner

Submissions for variant NM_001374258.1(BRAF):c.1633C>T (p.Leu545Phe) (rs397507477)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000033319 SCV000057224 pathogenic not provided 2020-12-04 criteria provided, single submitter clinical testing Published functional studies demonstrate an increased kinase activity (Hu et al., 2013); Not observed in large population cohorts (Lek et al., 2016); Missense variants in this gene are often considered pathogenic (Stenson et al., 2014); 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: 27481329, 23993095)
Service de Génétique Moléculaire,Hôpital Robert Debré RCV000824923 SCV000965955 likely pathogenic Noonan syndrome no assertion criteria provided clinical testing

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