ClinVar Miner

Variants in gene RAF1

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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
32 38 169 116 45 2 331

Condition and significance breakdown #

Total conditions: 28
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 21 12 60 29 25 0 141
not specified 0 0 51 56 20 0 122
Rasopathy 12 7 41 29 13 0 94
Noonan syndrome 13 19 25 12 0 0 62
Noonan syndrome with multiple lentigines 4 0 25 12 0 0 41
Cardiovascular phenotype 1 2 17 12 4 0 36
Noonan syndrome 5 5 0 1 0 0 2 7
LEOPARD syndrome 2; Noonan syndrome 5; Cardiomyopathy, dilated, 1NN 3 0 2 0 0 0 5
Primary familial hypertrophic cardiomyopathy 1 3 1 0 0 0 5
Inborn genetic diseases 2 1 1 0 0 0 4
Cardiomyopathy, dilated, 1NN 3 0 0 0 0 0 3
Adenocarcinoma of stomach 0 2 0 0 0 0 2
Cutaneous melanoma 0 2 0 0 0 0 2
LEOPARD syndrome 2 2 0 0 0 0 0 2
Lung adenocarcinoma 0 2 0 0 0 0 2
Malignant melanoma of skin 0 2 0 0 0 0 2
Neoplasm of the large intestine 0 2 0 0 0 0 2
B Lymphoblastic Leukemia/Lymphoma with t(v;11q23.3); KMT2A Rearranged 0 0 1 0 0 0 1
Chordoma 0 0 1 0 0 0 1
Familial dilated cardiomyopathy 0 0 1 0 0 0 1
Hepatoblastoma 0 0 1 0 0 0 1
LEOPARD syndrome 2; Noonan syndrome 5 1 0 0 0 0 0 1
Noonan syndrome 1 0 0 1 0 0 0 1
Noonan syndrome 3 0 1 0 0 0 0 1
Primary dilated cardiomyopathy 0 0 1 0 0 0 1
Retinoblastoma 0 0 1 0 0 0 1
See cases 0 0 1 0 0 0 1
Ventricular tachycardia 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 29
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GeneDx 21 11 51 50 24 0 157
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 12 9 32 25 12 0 90
Invitae 7 3 40 23 7 0 80
Ambry Genetics 2 3 18 12 4 0 39
Illumina Clinical Services Laboratory,Illumina 0 0 25 12 0 0 37
ClinGen RASopathy Variant Curation Expert Panel, 7 2 2 6 13 0 30
Integrated Genetics/Laboratory Corporation of America 3 4 11 5 6 0 29
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 4 0 10 2 3 0 19
PreventionGenetics 0 0 0 6 6 0 12
Database of Curated Mutations (DoCM) 0 11 0 0 0 0 11
Blueprint Genetics, 3 5 2 0 0 0 10
OMIM 7 0 0 0 0 0 7
Baylor Miraca Genetics Laboratories, 3 0 0 0 3 0 6
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 1 0 3 0 2 0 6
Fulgent Genetics 3 0 2 0 0 0 5
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 1 1 0 2 0 4
GeneReviews 4 0 0 0 0 0 4
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 0 4 0 0 0 4
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 0 3 1 0 0 4
Clinical Genomics Lab,St. Jude Children's Research Hospital 0 0 4 0 0 0 4
Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP) 0 0 0 0 0 2 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 2 0 0 0 2
Center for Human Genetics, Inc 0 0 1 0 0 0 1
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 1 0 0 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 0 0 0 1
ISCA site 4 0 0 1 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 0 0 0 0 1
Genetics Molecular Biology Lab,Hospital Juan P Garrahan 0 0 1 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.