ClinVar Miner

Variants in gene RAF1

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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
35 46 299 170 66 4 505

Condition and significance breakdown #

Total conditions: 29
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Rasopathy 19 7 148 64 18 0 240
not provided 22 14 64 49 26 2 171
not specified 0 0 63 72 28 0 154
Noonan syndrome 5 7 3 45 14 5 2 74
LEOPARD syndrome 2 3 2 36 4 24 0 68
Noonan syndrome 13 22 17 7 1 0 50
Cardiovascular phenotype 1 2 15 13 5 0 36
Noonan syndrome with multiple lentigines 4 0 3 2 0 0 9
Primary familial hypertrophic cardiomyopathy 1 3 3 0 0 0 7
none provided 1 0 1 1 3 0 6
LEOPARD syndrome 2; Noonan syndrome 5; Cardiomyopathy, dilated, 1NN 3 0 2 0 0 0 5
Cardiomyopathy, dilated, 1NN 3 0 1 0 0 0 4
Inborn genetic diseases 2 1 1 0 0 0 4
Noonan syndrome with multiple lentigines; Noonan syndrome 2 0 1 0 0 0 3
Adenocarcinoma of stomach 0 2 0 0 0 0 2
Familial hypertrophic cardiomyopathy 1 1 0 1 0 0 0 2
LEOPARD syndrome 2; Noonan syndrome 5 1 1 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
Melanoma 0 2 0 0 0 0 2
Neoplasm of the large intestine 0 2 0 0 0 0 2
Noonan syndrome 1 1 0 1 0 0 0 2
Primary dilated cardiomyopathy 1 0 1 0 0 0 2
Noonan syndrome 3 0 1 0 0 0 0 1
Noonan syndrome and Noonan-related syndrome 0 0 0 0 1 0 1
Pituitary stalk interruption syndrome 0 0 1 0 0 0 1
Primary familial dilated cardiomyopathy 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: 46
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 14 3 146 67 9 0 239
GeneDx 21 11 50 50 25 0 157
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 12 9 31 28 13 0 93
Integrated Genetics/Laboratory Corporation of America 4 4 21 20 21 0 70
Illumina Clinical Services Laboratory,Illumina 0 0 46 18 24 0 67
ClinGen RASopathy Variant Curation Expert Panel 9 2 4 9 18 0 42
Ambry Genetics 2 3 16 13 5 0 39
Service de Génétique Moléculaire,Hôpital Robert Debré 0 5 11 5 0 0 21
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 4 0 10 2 3 0 19
Blueprint Genetics 4 7 8 0 0 0 19
PreventionGenetics, PreventionGenetics 0 0 0 6 6 0 12
Database of Curated Mutations (DoCM) 0 11 0 0 0 0 11
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 1 1 2 1 5 0 10
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 1 0 7 1 0 0 9
OMIM 7 0 0 0 0 0 7
Baylor Genetics 4 0 0 0 3 0 7
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 4 3 0 0 7
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 1 0 3 0 2 0 6
Mendelics 1 2 2 0 0 0 5
Fulgent Genetics,Fulgent Genetics 3 0 2 0 0 0 5
GeneReviews 4 0 0 0 0 0 4
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 4 0 0 0 4
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 0 0 3 0 1 0 4
Institute of Human Genetics, Klinikum rechts der Isar 2 0 0 0 0 0 2
Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP) 0 0 0 0 0 2 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 1 0 0 0 2
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 1 0 0 0 0 2
Center for Human Genetics, Inc,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
ISCA site 4 0 0 1 0 0 0 1
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 0 1
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 0 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 0 1
Genetics Molecular Biology Lab, Hospital Juan P Garrahan 0 0 1 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 1
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 1 0 0 0 0 0 1
GenomeConnect - CFC International 0 0 0 0 0 1 1
New York Genome Center 0 0 1 0 0 0 1
Human Developmental Genetics,Institut Pasteur 0 0 1 0 0 0 1

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