ClinVar Miner

Submissions for variant NM_001374258.1(BRAF):c.2311C>T (p.Pro771Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000681057 SCV000808510 pathogenic not provided 2019-09-05 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); The majority of missense variants in this gene are considered pathogenic (Stenson et al., 2014); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been published previously as a germline pathogenic variant, nor as a benign variant, to our knowledge.; This variant is associated with the following publications: (PMID: 24210172)
Service de Génétique Moléculaire,Hôpital Robert Debré RCV001261050 SCV001438452 likely pathogenic Noonan syndrome no assertion criteria provided clinical testing

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