ClinVar Miner

Submissions for variant NM_004333.6(BRAF):c.1799_1801del (p.Val600_Lys601delinsGlu) (rs397516897)

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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 RCV000037937 SCV000061602 likely pathogenic Non-small cell lung cancer 2011-10-12 criteria provided, single submitter clinical testing Positive. The Val600_Lys601delinsGlu variant has not been previously reported i n lung tumors, but has been reported as a confirmed somatic variant in papillary thyroid carcinomas (COSMIC). Somatic BRAF variants have been identified in up t o 3% of cases of lung adenocarcinoma (Davies 2002).
Department of Pathology and Laboratory Medicine,Sinai Health System RCV001354719 SCV001549403 uncertain significance not provided no assertion criteria provided clinical testing

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