ClinVar Miner

Variants in gene BRAF

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If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign drug response other not provided total
88 114 146 109 58 3 1 21 413

Condition and significance breakdown #

Total conditions: 67
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Condition pathogenic likely pathogenic uncertain significance likely benign benign drug response other not provided total
not provided 47 22 53 44 22 0 0 3 181
not specified 2 0 25 52 37 0 0 5 109
Rasopathy 18 11 41 17 23 0 0 1 105
Cardio-facio-cutaneous syndrome 18 21 9 16 1 0 0 3 64
Cutaneous melanoma 17 30 0 0 0 0 0 0 47
Noonan syndrome 7 5 2 26 10 2 0 0 0 44
LEOPARD syndrome 3 2 0 22 3 13 0 0 0 40
Cardiofaciocutaneous syndrome 1 18 7 1 1 1 0 0 4 29
Lung adenocarcinoma 2 21 0 0 0 0 0 0 22
Noonan syndrome 3 7 9 3 0 0 0 0 21
Multiple myeloma 0 20 0 0 0 0 0 0 20
Malignant melanoma of skin 0 19 0 0 0 0 0 0 19
Neoplasm of the large intestine 8 8 0 0 0 0 0 0 16
Non-small cell lung cancer 9 8 0 0 0 0 0 1 16
Neoplasm 0 14 0 0 0 0 0 0 14
Noonan syndrome; Cardio-facio-cutaneous syndrome 8 5 0 0 0 0 0 1 13
Transitional cell carcinoma of the bladder 0 11 0 0 0 0 0 0 11
Adenocarcinoma of prostate 0 9 0 0 0 0 0 0 9
Cardiofaciocutaneous syndrome 1; Lung cancer; Noonan syndrome 1; LEOPARD syndrome 3; Noonan syndrome 7 2 3 4 0 0 0 0 0 9
Inborn genetic diseases 6 3 0 0 0 0 0 0 9
Noonan syndrome with multiple lentigines 2 0 5 2 0 0 0 0 9
Chronic lymphocytic leukemia 0 7 0 0 0 0 0 0 7
Squamous cell carcinoma of the head and neck 0 7 0 0 0 0 0 0 7
Squamous cell lung carcinoma 0 7 0 0 0 0 0 0 7
Lung cancer 6 0 0 0 0 0 0 0 6
Noonan syndrome and Noonan-related syndrome 4 2 0 0 0 0 0 0 6
Carcinoma of colon 5 0 0 0 0 0 0 0 5
Glioblastoma 0 5 0 0 0 0 0 0 5
Noonan syndrome 1 4 0 0 0 0 0 0 1 5
Neoplasm of brain 0 4 0 0 0 0 0 0 4
Papillary renal cell carcinoma, sporadic 0 4 0 0 0 0 0 0 4
Squamous cell carcinoma of the skin 0 4 0 0 0 0 0 0 4
Adenocarcinoma of stomach 0 3 0 0 0 0 0 0 3
Adrenocortical carcinoma 0 3 0 0 0 0 0 0 3
Malignant neoplasm of body of uterus 0 3 0 0 0 0 0 0 3
Neoplasm of the thyroid gland 0 3 0 0 0 0 0 0 3
Non-Hodgkin lymphoma 3 0 0 0 0 0 0 0 3
Ovarian Neoplasms 2 1 0 0 0 0 0 0 3
Ovarian Serous Cystadenocarcinoma 0 3 0 0 0 0 0 0 3
Cardiofaciocutaneous syndrome 1; LEOPARD syndrome 3; Noonan syndrome 7 1 0 0 0 0 0 0 1 2
Cerebral arteriovenous malformation 2 0 0 0 0 0 0 0 2
Colonic neoplasm 0 2 0 0 0 0 0 0 2
Trametinib-Dabrafenib Response 0 0 0 0 0 2 0 0 2
Vemurafenib-Cobimetinib Response 0 0 0 0 0 2 0 0 2
Astrocytoma, low-grade, somatic 1 0 0 0 0 0 0 0 1
B lymphoblastic leukemia lymphoma with t(12;21)(p13;q22); TEL-AML1 (ETV6-RUNX1) 0 0 1 0 0 0 0 0 1
Brainstem glioma 0 1 0 0 0 0 0 0 1
Cardiomyopathy 0 0 0 0 1 0 0 0 1
Childhood ganglioglioma 1 0 0 0 0 0 0 0 1
Chronic myelogenous leukemia, BCR-ABL1 positive 0 1 0 0 0 0 0 0 1
Colorectal cancer 0 0 0 0 0 0 1 0 1
Costello syndrome 0 0 1 0 0 0 0 0 1
Cystic epithelial invagination containing papillae lined by columnar epithelium 1 0 0 0 0 0 0 0 1
Dabrafenib response 0 0 0 0 0 1 0 0 1
Dilated cardiomyopathy 0 0 0 1 0 0 0 0 1
Endometrial carcinoma 0 0 0 0 0 0 0 1 1
Familial hypertrophic cardiomyopathy 4 1 0 0 0 0 0 0 0 1
Follicular thyroid carcinoma 1 0 0 0 0 0 0 0 1
Gastrointestinal stromal tumor 1 0 0 0 0 0 0 0 1
Germ cell tumor, nonseminomatous 1 0 0 0 0 0 0 0 1
Global developmental delay 0 1 0 0 0 0 0 0 1
Hypertrophic cardiomyopathy 0 0 1 0 0 0 0 0 1
Neoplasm of the breast 0 1 0 0 0 0 0 0 1
Non-small cell lung cancer; Neoplasm of the large intestine 1 0 0 0 0 0 0 0 1
PHACE syndrome; Tethered cord; Genetic syndrome with a Dandy-Walker malformation as major feature 1 0 0 0 0 0 0 0 1
Papillary thyroid carcinoma 1 0 0 0 0 0 0 1 1
Pulmonic stenosis (disease); Webbed neck; Downslanted palpebral fissures; Premature birth; Wide intermamillary distance; High forehead; Low-set, posteriorly rotated ears; Ventricular hypertrophy; Neonatal respiratory distress; Ventricular septal defect 0 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 56
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign drug response other not provided total
GeneDx 41 12 43 39 43 0 0 0 178
Invitae 16 6 40 36 13 0 0 0 111
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 29 26 16 26 7 0 0 1 105
Database of Curated Mutations (DoCM) 24 53 0 0 0 0 0 1 65
Illumina Clinical Services Laboratory,Illumina 0 0 31 17 13 0 0 0 44
Integrated Genetics/Laboratory Corporation of America 2 1 9 5 15 0 0 0 32
ClinGen RASopathy Variant Curation Expert Panel 11 3 0 3 15 0 0 0 32
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 6 1 8 3 10 0 0 0 28
OMIM 26 0 0 0 0 0 0 0 26
Service de Génétique Moléculaire,Hôpital Robert Debré 0 14 5 3 0 0 0 0 22
PreventionGenetics,PreventionGenetics 0 0 0 5 12 0 0 0 17
GeneReviews 14 0 0 0 0 0 0 0 14
GenomeConnect - CFC International 0 0 0 0 0 0 0 11 11
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 0 1 3 0 5 0 0 0 9
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 2 7 0 0 0 0 0 0 9
Ambry Genetics 6 3 0 0 0 0 0 0 9
Fulgent Genetics,Fulgent Genetics 2 3 4 0 0 0 0 0 9
Mendelics 2 5 0 1 0 0 0 0 8
Blueprint Genetics 5 3 0 0 0 0 0 0 8
Baylor Genetics 4 1 0 0 1 0 0 0 6
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 2 0 0 0 4 0 0 0 6
Center for Human Genetics, Inc,Center for Human Genetics, Inc 2 1 1 0 1 0 0 0 5
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 5 0 0 0 0 0 0 0 5
ITMI 0 0 0 0 0 0 0 4 4
CeGaT Praxis fuer Humangenetik Tuebingen 3 0 0 0 0 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 3 0 0 0 0 0 0 0 3
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 0 0 1 1 1 0 0 0 3
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 1 0 1 0 0 0 0 0 2
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 1 0 1 0 0 0 2
Institute of Human Genetics,Klinikum rechts der Isar 2 0 0 0 0 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 2 0 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 0 2 2
CIViC knowledgebase,Washington University School of Medicine 0 0 0 0 0 2 1 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 2 0 0 0 0 0 0 2
Arin Greene Laboratory,Boston Children's Hospital, Harvard Medical School 2 0 0 0 0 0 0 0 2
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 1 0 0 0 0 0 0 0 1
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 1 0 0 0 0 0 0 0 1
Laboratory of Translational Genomics, National Cancer Institute 0 0 0 0 0 0 0 1 1
Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP) 0 0 0 0 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 0 0 1
Dobyns Lab,Seattle Children's Research Institute 1 0 0 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 0 0 0 0 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 0 0 0 0 1
Institute of Molecular Biology and Genetics,Federal Almazov North-West Medical Research Centre 1 0 0 0 0 0 0 0 1
Undiagnosed Diseases Network,NIH 0 1 0 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 0 0 1
Yale Center for Mendelian Genomics,Yale University 1 0 0 0 0 0 0 0 1
Institute for Genomic Medicine, Nationwide Children's Hospital 1 0 0 0 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 0 0 0 0 0 0 1
Clinical Genomics Lab,St. Jude Children's Research Hospital 0 0 1 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 0 0 1
Gharavi Laboratory,Columbia University 0 0 1 0 0 0 0 0 1
Xiao lab, Department of Pathology, Memorial Sloan Kettering Cancer Center 0 1 0 0 0 0 0 0 1
Clinical Laboratory,New York Genome Center 0 0 0 0 0 1 0 0 1

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