ClinVar Miner

Submissions for variant NM_004333.6(BRAF):c.1799T>A (p.Val600Glu) (rs113488022)

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Total submissions: 26
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Database of Curated Mutations (DoCM) RCV000440540 SCV000504248 pathogenic Gastrointestinal stroma tumor 2014-10-02 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000067669 SCV000504249 pathogenic Cutaneous melanoma 2016-03-10 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000433305 SCV000504250 pathogenic Lung cancer 2014-10-02 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000443745 SCV000504251 pathogenic Neoplasm of the large intestine 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000425847 SCV000504252 likely pathogenic Glioblastoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000432628 SCV000504253 pathogenic Ovarian Neoplasms 2014-10-02 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000443448 SCV000504254 likely pathogenic Neoplasm 2016-05-13 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000425166 SCV000504255 likely pathogenic Brainstem glioma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000435441 SCV000504256 likely pathogenic Neoplasm of brain 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000417746 SCV000504257 likely pathogenic Malignant melanoma of skin 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000424470 SCV000504258 likely pathogenic Squamous cell carcinoma of the head and neck 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000037936 SCV000504259 not provided Non-small cell lung cancer 2016-03-10 no assertion provided literature only
Database of Curated Mutations (DoCM) RCV000420614 SCV000504260 likely pathogenic Neoplasm of the colon 2015-07-14 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000430562 SCV000504261 likely pathogenic Multiple myeloma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000440802 SCV000504262 likely pathogenic Papillary renal cell carcinoma, sporadic 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000014993 SCV000504263 not provided Papillary thyroid carcinoma 2016-03-10 no assertion provided literature only
Database of Curated Mutations (DoCM) RCV000429915 SCV000504264 likely pathogenic Lung adenocarcinoma 2016-05-31 no assertion criteria provided literature only
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000080903 SCV000112810 pathogenic not provided 2013-10-08 criteria provided, single submitter clinical testing
GeneReviews RCV000208763 SCV000264636 pathogenic Cardio-facio-cutaneous syndrome 2016-03-03 no assertion criteria provided literature only
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000037936 SCV000061601 pathogenic Non-small cell lung cancer 2009-05-29 no assertion criteria provided clinical testing
OMIM RCV000067669 SCV000035247 pathogenic Cutaneous melanoma 2014-09-04 no assertion criteria provided literature only
OMIM RCV000014992 SCV000035248 pathogenic Carcinoma of colon 2014-09-04 no assertion criteria provided literature only
OMIM RCV000014993 SCV000035249 pathogenic Papillary thyroid carcinoma 2014-09-04 no assertion criteria provided literature only
OMIM RCV000014994 SCV000035250 pathogenic Astrocytoma, low-grade, somatic 2014-09-04 no assertion criteria provided literature only
OMIM RCV000022677 SCV000043966 pathogenic Germ cell tumor, nonseminomatous 2014-09-04 no assertion criteria provided literature only
Yale Center for Mendelian Genomics,Yale University RCV000662278 SCV000784606 pathogenic Cystic epithelial invagination containing papillae lined by columnar epithelium 2015-05-07 no assertion criteria provided literature only

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