ClinVar Miner

Submissions for variant NM_004333.6(BRAF):c.1798G>T (p.Val600Leu)

dbSNP: rs121913378
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000037935 SCV000061600 likely pathogenic Non-small cell lung carcinoma 2011-10-04 criteria provided, single submitter clinical testing Somatic BRAF variants have been identified in up to 3% of cases of lung adenocar cinoma (Davies 2002). The Val600Leu variant has been reported in an ovarian tum or cell line and in a urinary tract carcinoma (Pohl 2005, COSMIC).
Database of Curated Mutations (DoCM) RCV000435048 SCV000505027 likely pathogenic Melanoma 2015-07-14 no assertion criteria provided literature only
Caryl and Israel Englander Institute for Precision Medicine, Weill Cornell Medicine RCV002463625 SCV002758656 pathogenic Myoepithelial tumor 2022-11-01 no assertion criteria provided research

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