ClinVar Miner

Submissions for variant NM_001374258.1(BRAF):c.1918G>T (p.Val640Leu) (rs121913378)

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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 RCV000037935 SCV000061600 likely pathogenic Non-small cell lung cancer 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

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