Total submissions: 34
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000080903 | SCV000112810 | pathogenic | not provided | 2013-10-08 | criteria provided, single submitter | clinical testing | |
CIVi |
RCV001030018 | SCV001192822 | drug response | Trametinib-Dabrafenib Response | criteria provided, single submitter | curation | BRAF V600E mutant melanoma is sensitive to dabrafenib and trametinib combination therapy. Combination treatment of BRAF inhibitor dabrafenib and MEK inhibitor trametinib is recommended for adjuvant treatment of stage III or recurrent melanoma with BRAF V600E mutation detected by the approved THxID kit, as well as first line treatment for metastatic melanoma. The treatments are FDA approved and NCCN guidelines recommend these treatments as category 1 based on studies including the Phase III COMBI-V, COMBI-D and COMBI-AD Trials. Combination therapy is now recommended above BRAF inhibitor monotherapy. Dabrafenib and trametinib are recommend as NCCN Category 2A for second line therapy in metastatic melanoma due to lack of clear Phase III trial data for this use case. Cutaneous squamous-cell carcinoma and keratoacanthoma occur at lower rates with combination therapy than with BRAF inhibitor alone. | |
CIVi |
RCV001030020 | SCV001192824 | drug response | Vemurafenib-Cobimetinib Response | criteria provided, single submitter | curation | BRAF V600E mutant melanoma is sensitive to vemurafenib and cobimetinib combination therapy. Vemurafenib and cobimetinib combination is an FDA approved and NCCN Category 1 first line treatment for BRAF V600E mutant metastatic melanoma based on clinical data including the Phase III coBRIM trial. NCCN guidelines recommend combination BRAF/MEK inhibitor therapy over BRAF inhibitor monotherapy in this treatment context. Vemurafenib and cobimetinib combination is recommend as Category 2A treatment in second-line or later contexts, and it is recommended to use treatment options different from those used with the patient during first-line therapy. The cobas 4800 BRAF V600 Mutation Test is approved as an FDA companion test for Cotellic (cobimetinib) in combination with Zelboraf (vemurafenib). | |
CIVi |
RCV001030023 | SCV001192827 | other | Colorectal cancer | criteria provided, single submitter | curation | BRAF V600E indicates poor prognosis in advanced colorectal cancer. BRAF V600E was associated with worse prognosis in Phase II and III colorectal cancer, with a stronger effect in MSI-Low or MSI-Stable tumors. In metastatic CRC, V600E was associated with worse prognosis, and meta-analysis showed BRAF mutation in CRC associated with multiple negative prognostic markers. NCCN Guidelines state that that mutations in BRAF are a strong prognostic marker, and recommend BRAF genotyping of either primary or metastatic tumor tissue at diagnosis of stage IV disease. | |
Clinical Genetics Karolinska University Hospital, |
RCV000080903 | SCV001450230 | pathogenic | not provided | 2014-07-11 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000067669 | SCV000035247 | pathogenic | 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 | |
Laboratory for Molecular Medicine, |
RCV000037936 | SCV000061601 | pathogenic | Non-small cell lung cancer | 2009-05-29 | no assertion criteria provided | clinical testing | |
Gene |
RCV000208763 | SCV000264636 | pathogenic | Cardio-facio-cutaneous syndrome | 2016-03-03 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000440540 | SCV000504248 | pathogenic | Gastrointestinal stromal tumor | 2014-10-02 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000067669 | SCV000504249 | pathogenic | Melanoma | 2016-03-10 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000433305 | SCV000504250 | pathogenic | Lung carcinoma | 2014-10-02 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000443745 | SCV000504251 | pathogenic | Neoplasm of the large intestine | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000425847 | SCV000504252 | likely pathogenic | Glioblastoma | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000432628 | SCV000504253 | pathogenic | Neoplasm of ovary | 2014-10-02 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000443448 | SCV000504254 | likely pathogenic | Neoplasm | 2016-05-13 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000425166 | SCV000504255 | likely pathogenic | Brainstem glioma | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000435441 | SCV000504256 | likely pathogenic | Neoplasm of brain | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000417746 | SCV000504257 | likely pathogenic | Malignant melanoma of skin | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
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 |
RCV000037936 | SCV000504259 | not provided | Non-small cell lung cancer | 2016-03-10 | no assertion provided | literature only | |
Database of Curated Mutations |
RCV000420614 | SCV000504260 | likely pathogenic | Colonic neoplasm | 2015-07-14 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000430562 | SCV000504261 | likely pathogenic | Multiple myeloma | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000440802 | SCV000504262 | likely pathogenic | Papillary renal cell carcinoma, sporadic | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000014993 | SCV000504263 | not provided | Papillary thyroid carcinoma | 2016-03-10 | no assertion provided | literature only | |
Database of Curated Mutations |
RCV000429915 | SCV000504264 | likely pathogenic | Lung adenocarcinoma | 2016-05-31 | no assertion criteria provided | literature only | |
Yale Center for Mendelian Genomics, |
RCV000662278 | SCV000784606 | pathogenic | Cystic epithelial invagination containing papillae lined by columnar epithelium | 2015-05-07 | no assertion criteria provided | literature only | |
Arin Greene Laboratory, |
RCV000860020 | SCV000992587 | pathogenic | Cerebral arteriovenous malformation | no assertion criteria provided | research | ||
Xiao lab, |
RCV000430562 | SCV001132084 | likely pathogenic | Multiple myeloma | 2019-08-31 | no assertion criteria provided | clinical testing | |
Pediatric Oncology, |
RCV001248834 | SCV001147031 | pathogenic | Nephroblastoma | 2019-02-15 | no assertion criteria provided | clinical testing | |
Investigational Cancer Therapeutics, |
RCV001254874 | SCV001424772 | likely pathogenic | Cancer | no assertion criteria provided | research |