ClinVar Miner

Variants in gene SOS1

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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
33 30 278 186 71 2 515

Condition and significance breakdown #

Total conditions: 30
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 29 12 111 86 33 0 253
not specified 2 0 69 86 41 0 180
Rasopathy 19 3 71 18 25 0 134
Noonan syndrome 21 8 63 21 12 0 119
Gingival fibromatosis 0 0 58 18 0 0 76
Noonan syndrome 4 6 1 6 0 0 2 15
Gingival fibromatosis 1; Noonan syndrome 4 6 0 5 0 0 0 11
Noonan syndrome 1 5 1 4 1 0 0 11
Noonan syndrome and Noonan-related syndrome 2 4 1 1 1 0 9
Inborn genetic diseases 2 3 0 0 0 0 5
Gingival fibromatosis 1 1 0 1 0 0 0 2
Noonan syndrome 3 1 1 0 0 0 0 2
Abnormality of the aortic valve 1 0 0 0 0 0 1
Acute monocytic leukemia; Acute monoblastic leukemia 0 0 1 0 0 0 1
Arrhythmogenic right ventricular cardiomyopathy 0 0 0 0 1 0 1
B lymphoblastic leukemia lymphoma with t(12;21)(p13;q22); TEL-AML1 (ETV6-RUNX1) 0 0 1 0 0 0 1
B-Lymphoblastic Leukemia/Lymphoma with Intrachromosomal Amplification of Chromosome 21 0 0 1 0 0 0 1
Cardiomyopathy; Hypertrophic cardiomyopathy; Dilated cardiomyopathy 0 0 0 0 1 0 1
Hypertrophic cardiomyopathy 0 0 0 1 0 0 1
Low Grade Glioma; Childhood Visual Pathway Glioma 0 0 1 0 0 0 1
Lung adenocarcinoma 0 1 0 0 0 0 1
Malignant neoplasm of body of uterus 0 1 0 0 0 0 1
Medulloblastoma 0 0 1 0 0 0 1
Multiple cafe-au-lait spots; Atrial septal defect 0 0 1 0 0 0 1
Neuroblastoma 0 0 1 0 0 0 1
Primary dilated cardiomyopathy 0 0 1 0 0 0 1
Primary familial hypertrophic cardiomyopathy 0 0 0 1 0 0 1
Pulmonic stenosis; 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: 39
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GeneDx 29 8 80 78 37 0 232
Invitae 17 3 70 53 18 0 161
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 19 8 44 24 18 0 113
Illumina Clinical Services Laboratory,Illumina 0 0 59 18 0 0 77
Integrated Genetics/Laboratory Corporation of America 6 1 33 13 10 0 63
ClinGen RASopathy Variant Curation Expert Panel 10 4 1 13 24 0 52
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 10 0 6 5 16 0 36
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 3 0 18 5 10 0 36
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
Fulgent Genetics,Fulgent Genetics 6 0 5 0 0 0 11
OMIM 6 0 0 0 0 0 6
Mendelics 0 1 4 1 0 0 6
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 1 3 1 0 6
Baylor Genetics 2 0 1 0 2 0 5
Ambry Genetics 2 3 0 0 0 0 5
Clinical Genomics Lab,St. Jude Children's Research Hospital 0 0 5 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
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
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 1 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 0 0 0 0 0 2
Phosphorus, Inc. 0 0 2 0 0 0 2
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
Institute of Human Genetics,University of Goettingen 0 0 1 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
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
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 1 0 0 0 1
Klaassen Lab,Charite University Medicine Berlin 0 0 1 0 0 0 1

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