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
89 118 207 124 65 3 1 21 475

Condition and significance breakdown #

Total conditions: 73
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Condition pathogenic likely pathogenic uncertain significance likely benign benign drug response other not provided total
not provided 47 22 63 45 22 0 0 3 191
Rasopathy 28 14 74 36 23 0 0 1 165
not specified 2 0 40 57 46 0 0 5 136
Noonan syndrome 7 6 3 28 10 2 0 0 0 48
Cardio-facio-cutaneous syndrome 20 21 7 1 0 0 0 3 47
Melanoma 17 30 0 0 0 0 0 0 47
LEOPARD syndrome 3 3 0 22 3 13 0 0 0 41
Cardiofaciocutaneous syndrome 1 20 8 7 1 1 0 0 4 38
Noonan syndrome 3 8 16 5 0 0 0 0 30
Lung adenocarcinoma 2 21 0 0 0 0 0 0 22
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
Inborn genetic diseases 8 4 0 0 0 0 0 0 12
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 carcinoma; Noonan syndrome 1; LEOPARD syndrome 3; Noonan syndrome 7 2 3 4 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 carcinoma 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
none provided 0 1 0 0 3 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 ovary 2 1 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 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
Costello syndrome 0 0 1 1 0 0 0 0 2
Gallbladder cancer 0 1 1 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
Brainstem glioma 0 1 0 0 0 0 0 0 1
Breast neoplasm 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
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
Dandy-Walker syndrome 0 1 0 0 0 0 0 0 1
Endometrial carcinoma 0 0 0 0 0 0 0 1 1
Familial cardiofaciocutaneous syndrome 1 0 0 0 0 0 0 0 1
Familial hypertrophic cardiomyopathy 4 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
Lip and oral cavity carcinoma 1 0 0 0 0 0 0 0 1
Malignant neoplastic disease 0 1 0 0 0 0 0 0 1
Nephroblastoma 1 0 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
Primary dilated cardiomyopathy 0 0 0 1 0 0 0 0 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
Thyroid cancer, nonmedullary, 2 1 0 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 67
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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 19 7 73 48 13 0 0 0 160
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 29 26 17 26 7 0 0 1 106
Integrated Genetics/Laboratory Corporation of America 5 3 23 15 34 0 0 0 80
Database of Curated Mutations (DoCM) 24 53 0 0 0 0 0 1 65
Illumina Clinical Services Laboratory,Illumina 0 0 32 11 13 0 0 0 45
ClinGen RASopathy Variant Curation Expert Panel 19 5 2 4 15 0 0 0 45
Service de Génétique Moléculaire,Hôpital Robert Debré 0 15 13 5 0 0 0 0 33
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
PreventionGenetics, PreventionGenetics 0 0 0 5 12 0 0 0 17
GeneReviews 14 0 0 0 0 0 0 0 14
Ambry Genetics 8 4 0 0 0 0 0 0 12
GenomeConnect - CFC International 0 0 0 0 0 0 0 11 11
Baylor Genetics 6 1 2 0 1 0 0 0 10
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
Fulgent Genetics,Fulgent Genetics 2 3 4 0 0 0 0 0 9
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 9 0 0 0 0 0 9
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 2 1 0 0 5 0 0 0 8
Mendelics 2 5 0 1 0 0 0 0 8
Blueprint Genetics 5 3 0 0 0 0 0 0 8
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 2 4 0 0 0 0 0 7
CeGaT Praxis fuer Humangenetik Tuebingen 4 0 2 0 0 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
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 4 0 0 0 0 0 0 0 4
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 0 0 1 1 1 0 0 0 3
Institute of Medical Sciences, Banaras Hindu University 1 1 1 0 0 0 0 0 3
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 1 0 1 0 0 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,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
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 2 0 0 0 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 0 2 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 0 0 0 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
Clinical Genetics laboratory, University of Goettingen 0 0 1 0 0 0 0 0 1
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 1 0 0 0 0 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 0 1 0 0 0 0 0 0 1
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 1 0 0 0 0 0 0 0 1
Natera, Inc. 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
University of Washington Center for Mendelian Genomics, University of Washington 0 1 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
Institute of Human Genetics, University of Leipzig Medical Center 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
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 0 0 0 1 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
Pediatric Oncology, Johns Hopkins University 1 0 0 0 0 0 0 0 1
Investigational Cancer Therapeutics,MD Anderson Cancer Center 0 1 0 0 0 0 0 0 1

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