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 not provided total
84 99 113 86 58 10 358

Condition and significance breakdown #

Total conditions: 56
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 46 22 56 23 22 2 161
not specified 2 0 26 48 37 5 106
Rasopathy 16 14 27 16 25 0 93
Cardio-facio-cutaneous syndrome 18 13 8 16 1 0 55
Cutaneous melanoma 17 30 0 0 0 0 47
Noonan syndrome 3 2 9 16 1 0 31
Noonan syndrome with multiple lentigines 2 0 8 16 1 0 27
Lung adenocarcinoma 2 21 0 0 0 0 22
Multiple myeloma 0 20 0 0 0 0 20
Malignant melanoma of skin 0 19 0 0 0 0 19
Cardiofaciocutaneous syndrome 1 14 2 1 0 1 1 17
Neoplasm of the large intestine 8 8 0 0 0 0 16
Non-small cell lung cancer 9 8 0 0 0 1 16
Neoplasm 0 14 0 0 0 0 14
Transitional cell carcinoma of the bladder 0 11 0 0 0 0 11
Adenocarcinoma of prostate 0 9 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 9
Inborn genetic diseases 6 3 0 0 0 0 9
Chronic lymphocytic leukemia 0 7 0 0 0 0 7
Squamous cell carcinoma of the head and neck 0 7 0 0 0 0 7
Squamous cell lung carcinoma 0 7 0 0 0 0 7
Lung cancer 6 0 0 0 0 0 6
Noonan syndrome 7 5 2 0 0 0 0 6
Noonan syndrome and Noonan-related syndrome 4 2 0 0 0 0 6
Carcinoma of colon 5 0 0 0 0 0 5
Glioblastoma 0 5 0 0 0 0 5
Neoplasm of brain 0 4 0 0 0 0 4
Noonan syndrome 1 4 0 0 0 0 0 4
Papillary renal cell carcinoma, sporadic 0 4 0 0 0 0 4
Squamous cell carcinoma of the skin 0 4 0 0 0 0 4
Adenocarcinoma of stomach 0 3 0 0 0 0 3
Adrenocortical carcinoma 0 3 0 0 0 0 3
Malignant neoplasm of body of uterus 0 3 0 0 0 0 3
Neoplasm of the thyroid gland 0 3 0 0 0 0 3
Non-Hodgkin lymphoma 3 0 0 0 0 0 3
Ovarian Neoplasms 2 1 0 0 0 0 3
Ovarian Serous Cystadenocarcinoma 0 3 0 0 0 0 3
LEOPARD syndrome 3 2 0 0 0 0 0 2
Neoplasm of the colon 0 2 0 0 0 0 2
Astrocytoma, low-grade, somatic 1 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 1
Brainstem glioma 0 1 0 0 0 0 1
Childhood ganglioglioma 1 0 0 0 0 0 1
Chronic myelogenous leukemia 0 1 0 0 0 0 1
Cystic epithelial invagination containing papillae lined by columnar epithelium 1 0 0 0 0 0 1
Endometrial carcinoma 0 0 0 0 0 1 1
Familial hypertrophic cardiomyopathy 4 1 0 0 0 0 0 1
Follicular thyroid carcinoma 1 0 0 0 0 0 1
Gastrointestinal stroma tumor 1 0 0 0 0 0 1
Germ cell tumor, nonseminomatous 1 0 0 0 0 0 1
Global developmental delay 0 1 0 0 0 0 1
Neoplasm of the breast 0 1 0 0 0 0 1
Non-small cell lung cancer; Carcinoma of colon 1 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 1
Papillary thyroid carcinoma 1 0 0 0 0 1 1
Pulmonic stenosis; 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 1

Submitter and significance breakdown #

Total submitters: 44
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GeneDx 41 12 43 39 43 0 178
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 29 26 16 25 7 1 104
Database of Curated Mutations (DoCM) 24 53 0 0 0 1 65
Invitae 6 5 26 13 10 0 60
ClinGen RASopathy Variant Curation Expert Panel 11 3 0 3 17 0 34
Integrated Genetics/Laboratory Corporation of America 2 1 13 1 15 0 32
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 6 1 8 3 10 0 28
OMIM 26 0 0 0 0 0 26
Illumina Clinical Services Laboratory,Illumina 0 0 8 16 1 0 25
PreventionGenetics 0 0 0 5 12 0 17
GeneReviews 14 0 0 0 0 0 14
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 0 1 3 0 5 0 9
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 2 7 0 0 0 0 9
Ambry Genetics 6 3 0 0 0 0 9
Fulgent Genetics 2 3 4 0 0 0 9
Blueprint Genetics, 5 3 0 0 0 0 8
Baylor Miraca Genetics Laboratories, 4 1 0 0 1 0 6
Center for Human Genetics, Inc 2 1 1 0 1 0 5
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 2 0 0 0 2 0 4
ITMI 0 0 0 0 0 4 4
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 1 0 1 0 0 0 2
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 1 0 1 0 2
Institute of Human Genetics,Klinikum rechts der Isar 2 0 0 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 2 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 2 0 0 0 0 2
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 1 0 0 0 0 0 1
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 1 0 0 0 0 0 1
Mendelics 1 0 0 0 0 0 1
Laboratory of Translational Genomics, National Cancer Institute 0 0 0 0 0 1 1
Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP) 0 0 0 0 0 1 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
Dobyns Lab,Seattle Children's Research Institute 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 1 0 0 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab),CHU de Nantes 1 0 0 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
Institute of Molecular Biology and Genetics,Federal Almazov North-West Medical Research Centre 1 0 0 0 0 0 1
Undiagnosed Diseases Network,NIH 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 1
Yale Center for Mendelian Genomics,Yale University 1 0 0 0 0 0 1
Institute for Genomic Medicine, Nationwide Children's Hospital 1 0 0 0 0 0 1
Clinical Genomics Lab,St. Jude Children's Research Hospital 0 0 1 0 0 0 1
Gharavi Laboratory,Columbia University 0 0 1 0 0 0 1

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