ClinVar Miner

Variants in gene SOS1

Minimum submission review status: Collection method:
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Gene type:
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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
34 36 416 232 103 5 685

Condition and significance breakdown #

Total conditions: 27
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Rasopathy 25 5 146 68 30 0 261
not provided 29 14 111 72 21 3 238
not specified 2 0 95 100 44 0 218
Noonan syndrome 4 9 1 116 24 9 2 161
Gingival fibromatosis 1 2 1 88 7 44 0 142
Noonan syndrome 21 10 42 17 12 0 98
Gingival fibromatosis 0 0 13 5 0 0 18
Gingival fibromatosis 1; Noonan syndrome 4 6 0 6 0 0 0 12
Noonan syndrome 1 5 1 3 1 0 0 10
Noonan syndrome and Noonan-related syndrome 2 4 1 1 1 0 9
none provided 1 0 1 1 5 0 8
Inborn genetic diseases 3 2 0 0 0 0 5
Noonan syndrome 3 1 1 0 0 0 0 2
Abnormality of the aortic valve 1 0 0 0 0 0 1
Arrhythmogenic right ventricular cardiomyopathy 0 0 0 0 1 0 1
Hypertrophic cardiomyopathy 0 0 0 1 0 0 1
Intellectual disability 0 0 1 0 0 0 1
Joubert syndrome 3 0 0 0 0 1 0 1
Lung adenocarcinoma 0 1 0 0 0 0 1
Malignant neoplasm of body of uterus 0 1 0 0 0 0 1
Neurofibromatosis type 6; Atrial septal defect 0 0 1 0 0 0 1
Primary dilated cardiomyopathy 0 0 1 0 0 0 1
Primary dilated cardiomyopathy; Cardiomyopathy; Hypertrophic cardiomyopathy 0 0 0 0 1 0 1
Primary familial hypertrophic cardiomyopathy 0 0 0 1 0 0 1
Pulmonic stenosis (disease); Short stature; Ptosis; Abnormality of the sternum 1 0 0 0 0 0 1
See cases 0 0 0 0 1 0 1
Ventricular tachycardia 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 49
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 24 4 144 78 18 0 268
GeneDx 29 8 80 78 37 0 232
Illumina Clinical Services Laboratory,Illumina 1 0 113 34 44 0 152
Integrated Genetics/Laboratory Corporation of America 11 1 61 30 21 0 124
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 19 8 44 24 18 0 113
ClinGen RASopathy Variant Curation Expert Panel 10 5 7 17 26 0 65
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 11 0 7 4 17 0 39
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 3 0 18 5 10 0 36
Service de Génétique Moléculaire,Hôpital Robert Debré 0 2 22 7 0 0 31
PreventionGenetics, PreventionGenetics 0 0 0 10 16 0 26
Blueprint Genetics 9 2 7 1 0 0 19
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 5 0 7 0 3 0 15
Baylor Genetics 3 0 7 0 2 0 12
Fulgent Genetics,Fulgent Genetics 6 0 5 0 0 0 11
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 1 7 0 0 0 10
OMIM 7 0 0 0 0 0 7
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 1 3 1 0 6
CeGaT Praxis fuer Humangenetik Tuebingen 2 1 2 1 0 0 6
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 0 0 3 2 1 0 6
Ambry Genetics 3 2 0 0 0 0 5
Mendelics 0 1 3 1 0 0 5
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 4 1 0 0 0 0 5
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 5 0 0 0 0 0 5
Genetic Services Laboratory, University of Chicago 0 0 1 3 0 0 4
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 2 1 1 0 0 0 4
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 0 0 1 1 2 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2 0 1 0 0 0 3
GenomeConnect - CFC International 0 0 0 0 0 3 3
Athena Diagnostics Inc 0 0 1 1 0 0 2
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 2 0 0 0 0 2
Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP) 0 0 0 0 0 2 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 0 2 0 0 0 2
Phosphorus, Inc. 0 0 2 0 0 0 2
Center for Human Genetics, Inc,Center for Human Genetics, Inc 1 0 0 0 0 0 1
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 1 0 0 0 1
Clinical Genetics laboratory, University of Goettingen 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 0 1
Database of Curated Mutations (DoCM) 0 1 0 0 0 0 1
GenePathDx,Causeway Health Care Private Ltd 1 0 0 0 0 0 1
Daryl Scott Lab,Baylor College of Medicine 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 0 0 0 1 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 1
Klaassen Lab,Charite University Medicine Berlin 0 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1

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