ClinVar Miner

Variants in gene SOS2

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Gene type:

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
8 10 1046 912 204 29 2007

Condition and significance breakdown #

Total conditions: 33
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Noonan syndrome 9 8 5 724 728 99 0 1501
Cardiovascular phenotype 0 1 377 247 18 0 643
not provided 5 0 116 115 123 0 349
not specified 0 0 70 82 62 0 208
SOS2-related disorder 1 0 32 38 13 0 84
Noonan syndrome and Noonan-related syndrome 0 0 3 2 20 0 25
Noonan syndrome 2 4 4 7 0 1 17
RASopathy 1 2 4 1 1 0 9
Gastric cancer 0 0 0 0 0 6 6
Hepatocellular carcinoma 0 0 0 0 0 4 4
Ovarian serous cystadenocarcinoma 0 0 0 0 0 4 4
Acute myeloid leukemia 0 0 0 0 0 2 2
Cervical cancer 0 0 0 0 0 2 2
Familial cancer of breast 0 0 0 0 0 2 2
Lung cancer 0 0 0 0 0 2 2
Melanoma 0 0 0 0 0 2 2
Nonpapillary renal cell carcinoma 0 0 0 0 0 2 2
Noonan syndrome 1 1 0 1 0 0 0 2
See cases 0 0 2 0 0 0 2
Squamous cell carcinoma of the head and neck 0 0 0 0 0 2 2
Thymoma 0 0 0 0 0 2 2
Uterine corpus endometrial carcinoma 0 0 0 0 0 2 2
Clear cell carcinoma of kidney 0 0 0 0 0 1 1
Colon adenocarcinoma 0 0 0 0 0 1 1
Congenital heart disease 0 0 0 1 0 0 1
Developmental disorder 0 0 0 1 0 0 1
EBV-positive nodal T- and NK-cell lymphoma 0 0 0 1 0 0 1
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 1 1
Malignant tumor of esophagus 0 0 0 0 0 1 1
Papillary renal cell carcinoma type 1 0 0 0 0 0 1 1
Sarcoma 0 0 0 0 0 1 1
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 1 1
Uterine carcinosarcoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 62
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 6 1 653 720 79 0 1459
Ambry Genetics 0 1 377 247 18 0 643
GeneDx 5 0 93 80 121 0 299
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 67 67 60 0 196
Genome-Nilou Lab 3 2 61 63 55 0 184
PreventionGenetics, part of Exact Sciences 1 0 32 38 13 0 84
Breakthrough Genomics, Breakthrough Genomics 0 0 2 20 40 0 62
CeGaT Center for Human Genetics Tuebingen 1 0 15 29 14 0 59
Mayo Clinic Laboratories, Mayo Clinic 0 0 7 9 20 0 36
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 28 28
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 5 9 13 0 27
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 0 3 2 20 0 25
Revvity Omics, Revvity 0 0 19 0 0 0 19
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 15 0 0 0 15
Fulgent Genetics, Fulgent Genetics 0 0 9 5 0 0 14
Service de Génétique Moléculaire, Hôpital Robert Debré 2 1 4 7 0 0 14
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 6 5 0 11
ClinGen RASopathy Variant Curation Expert Panel 0 1 4 1 1 0 7
Clinical Genetics, Academic Medical Center 0 0 0 0 7 0 7
Department of Human Genetics, University Hospital Magdeburg 6 1 0 0 0 0 7
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 0 2 2 1 0 6
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 1 5 0 6
New York Genome Center 0 0 6 0 0 0 6
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 0 4 0 0 4
Illumina Laboratory Services, Illumina 0 0 4 0 0 0 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 4 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 3 0 0 0 4
Baylor Genetics 0 0 3 0 0 0 3
Yale Center for Mendelian Genomics, Yale University 0 3 0 0 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 1 0 0 0 2
Centre of Medical Genetics, University Hospital Muenster 0 0 2 0 0 0 2
Clinical Genomics Laboratory, Stanford Medicine 0 0 2 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 2 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 0 2
MVZ Martinsried, Medicover Genetics 0 0 2 0 0 0 2
Medical Genetics Clinic, University of Catania 0 1 1 0 0 0 2
Molecular Genetics, Centre for Human Genetics 1 0 1 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 0 2
OMIM 2 0 0 0 0 0 2
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 0 0 0 0 0 1
Blueprint Genetics 0 0 1 0 0 0 1
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 0 0 1 0 0 1
Centre for Medical Genetics, Mumbai 0 0 0 1 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 1
Department of Clinical Pathology, School of Medicine, Fujita Health University 0 0 0 1 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 0 0 1 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Genetics Laboratory, Instituto de Ciencias en Reproduccion Humana 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 1 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1
Mendelics 0 0 0 1 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 1
Phosphorus, Inc. 0 0 1 0 0 0 1
Variantyx, Inc. 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1

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