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
31 24 265 153 66 2 469

Condition and significance breakdown #

Total conditions: 23
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 28 10 108 43 21 0 202
not specified 0 0 74 77 39 0 173
Rasopathy 17 2 55 30 26 0 122
Noonan syndrome 21 7 63 21 12 0 118
Gingival fibromatosis 0 0 58 18 0 0 76
Noonan syndrome 4 6 1 4 0 0 2 13
Gingival fibromatosis 1; Noonan syndrome 4 6 0 5 0 0 0 11
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
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
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 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

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GeneDx 29 8 81 77 37 0 232
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 19 7 43 25 17 0 111
Invitae 15 2 54 20 15 0 106
Illumina Clinical Services Laboratory,Illumina 0 0 59 18 0 0 77
Integrated Genetics/Laboratory Corporation of America 6 1 40 6 10 0 63
ClinGen RASopathy Variant Curation Expert Panel, 6 0 0 12 23 0 41
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 3 0 18 5 10 0 36
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 8 0 6 4 14 0 32
PreventionGenetics 0 0 0 10 16 0 26
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 5 0 7 0 3 0 15
Fulgent Genetics 6 0 5 0 0 0 11
OMIM 6 0 0 0 0 0 6
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 1 3 1 0 6
Baylor Miraca Genetics Laboratories, 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
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
Blueprint Genetics, 2 0 1 1 0 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
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
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

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