ClinVar Miner

Submissions for variant NM_001374258.1(BRAF):c.1516G>A (p.Gly506Arg) (rs121913353)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000037915 SCV000061577 likely pathogenic Non-small cell lung cancer 2010-08-20 criteria provided, single submitter clinical testing The Gly466Arg variant has been previously reported in the literature in two mela nomas (due to a different nucleotide change, 1396G>C, Kumar 2003, Houben 2004). In one of these tumors, a second variant in NRAS was observed . Different amino acid changes at this position have also been reported (Gly466Val, Gly466Ala, Gl y466Glu, COSMIC).
Database of Curated Mutations (DoCM) RCV000428876 SCV000505613 likely pathogenic Neoplasm of ovary 2015-07-14 no assertion criteria provided literature only

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