ClinVar Miner

Variants in gene RAF1

Minimum submission review status: Collection method:
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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
33 41 190 137 48 3 373

Condition and significance breakdown #

Total conditions: 31
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 22 14 65 61 32 1 181
not specified 0 0 47 65 23 0 128
Rasopathy 13 6 64 15 13 0 108
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 16 12 5 0 36
Noonan syndrome 5 5 1 2 0 0 2 9
LEOPARD syndrome 2 3 2 2 0 0 0 7
Primary familial hypertrophic cardiomyopathy 1 3 3 0 0 0 7
LEOPARD syndrome 2; Noonan syndrome 5; Cardiomyopathy, dilated, 1NN 3 0 2 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
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
Noonan syndrome 1 1 0 1 0 0 0 2
Noonan syndrome with multiple lentigines; Noonan syndrome 2 0 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
Dilated cardiomyopathy 1 0 0 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 3 0 1 0 0 0 0 1
Noonan syndrome and Noonan-related syndrome 0 0 0 0 1 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: 36
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GeneDx 21 11 50 50 25 0 157
Invitae 10 2 63 48 9 0 132
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 12 9 31 28 13 0 93
Ambry Genetics 2 3 17 12 5 0 39
Illumina Clinical Services Laboratory,Illumina 0 0 25 12 0 0 37
ClinGen RASopathy Variant Curation Expert Panel 7 2 2 6 14 0 31
Integrated Genetics/Laboratory Corporation of America 3 4 6 9 7 0 29
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
OMIM 7 0 0 0 0 0 7
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 0 6 1 0 0 7
Baylor Genetics 3 0 0 0 3 0 6
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 1 0 3 0 2 0 6
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 1 0 4 0 6
Mendelics 1 2 2 0 0 0 5
Fulgent Genetics,Fulgent Genetics 3 0 2 0 0 0 5
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 4 1 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
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
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
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
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
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

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