ClinVar Miner

Submissions for variant NM_004333.6(BRAF):c.1780G>A (p.Asp594Asn)

dbSNP: rs397516896
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital RCV006253739 SCV007105122 tier i - strong Pilocytic astrocytoma 2024-10-04 criteria provided, single submitter clinical testing Variant has Tier I (strong) clinical significance as a diagnostic inclusion criterion in pilocytic astrocytoma, based on the following evidence: 1) Documented in one or more cancer databases (e.g., St. Jude Pecan, COSMIC, CIViC, OncoKB). 2) Appears in one or more well-established professional guidelines (e.g., World Health Organization [WHO]; National Comprehensive Cancer Network [NCCN]) as providing diagnostic, prognostic, or therapeutic information. 3) Information in the literature supports potential biologic effect of variant (PMID: 28783719). 4) Diagnostic for a specific tumor type/classification according to professional guidelines (Evidence Level A; PMIDs: 23583981, 25785246, 28912153, 32289278).
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000037931 SCV000061596 likely pathogenic Non-small cell lung carcinoma 2010-05-13 criteria provided, single submitter clinical testing
Key Laboratory of Carcinogenesis and Cancer Invasion, Central South University RCV000443573 SCV004042819 likely pathogenic Lung adenocarcinoma no assertion criteria provided clinical testing
Laboratory of Virology, Oncology, Biosciences and Environment, Faculty of Sciences and Techniques, Mohammedia- University Hassan II of Casablanca RCV002291550 SCV002584891 uncertain significance Prostate cancer, hereditary, 1 2022-07-29 no assertion criteria provided clinical testing

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