ClinVar Miner

Variants in gene SOS1

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Minimum submission review status: Collection method:
Minimum conflict level:
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
44 73 1235 886 191 31 2123

Condition and significance breakdown #

Total conditions: 57
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
RASopathy 34 18 633 628 64 0 1368
Cardiovascular phenotype 12 2 359 283 14 0 670
not provided 34 23 337 158 118 3 618
Noonan syndrome 4 25 24 261 91 30 2 423
Fibromatosis, gingival, 1 4 2 189 71 60 0 326
not specified 2 0 137 134 48 0 294
Fibromatosis, gingival, 1; Noonan syndrome 4 9 4 64 15 2 0 94
Noonan syndrome 21 11 29 11 8 0 76
Noonan syndrome and Noonan-related syndrome 10 6 27 13 17 0 73
SOS1-related disorder 5 1 27 25 2 0 60
Noonan syndrome 1 11 1 3 1 0 0 16
Ovarian serous cystadenocarcinoma 0 0 0 0 0 9 9
Primary dilated cardiomyopathy 0 0 7 0 0 0 7
See cases 1 0 4 0 1 0 6
Gastric cancer 0 0 0 0 0 4 4
Lung cancer 0 0 0 0 0 4 4
Acute myeloid leukemia 0 0 0 0 0 3 3
Familial cancer of breast 0 0 0 0 0 3 3
Malignant tumor of esophagus 0 0 0 0 0 3 3
Malignant tumor of urinary bladder 0 0 0 0 0 3 3
Cervical cancer 0 0 0 0 0 2 2
Embryonal rhabdomyosarcoma 0 2 0 0 0 0 2
Inborn genetic diseases 0 2 0 0 0 0 2
Intellectual disability 0 0 0 1 1 0 2
Noonan syndrome 3 1 1 0 0 0 0 2
Sarcoma 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
46,XY partial gonadal dysgenesis 0 1 0 0 0 0 1
Abnormal aortic valve morphology 1 0 0 0 0 0 1
Arrhythmogenic right ventricular cardiomyopathy 0 0 0 0 1 0 1
Brugada syndrome 0 0 1 0 0 0 1
Cafe au lait spots, multiple; Atrial septal defect 0 0 1 0 0 0 1
Cholangiocarcinoma 0 0 0 0 0 1 1
Clear cell carcinoma of kidney 0 0 0 0 0 1 1
Colorectal cancer 0 0 0 0 0 1 1
Diffuse midline glioma, H3 K27M-mutant 0 1 0 0 0 0 1
Familial pancreatic carcinoma 0 0 0 0 0 1 1
Fetal anomalies with a likely genetic cause 1 0 0 0 0 0 1
Fetal cystic hygroma 1 0 0 0 0 0 1
Glioma susceptibility 1 0 0 0 0 0 1 1
Hepatocellular carcinoma 0 0 0 0 0 1 1
Hypertrophic cardiomyopathy 0 0 0 1 0 0 1
Joubert syndrome 3 0 0 0 0 1 0 1
Lymphoma 0 0 0 0 0 1 1
Male infertility with azoospermia or oligozoospermia due to single gene mutation 0 1 0 0 0 0 1
Male subfertility 0 1 0 0 0 0 1
Monogenic short statue 1 0 0 0 0 0 1
Neonatal hypotonia 1 0 0 0 0 0 1
Nonpapillary renal cell carcinoma 0 0 0 0 0 1 1
Obesity 0 0 1 0 0 0 1
Papillary renal cell carcinoma type 1 0 0 0 0 0 1 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; Short stature; Ptosis; Abnormal sternum morphology 1 0 0 0 0 0 1
Uterine carcinosarcoma 0 0 0 0 0 1 1
Ventricular tachycardia 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 115
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 33 18 631 628 56 0 1366
Ambry Genetics 12 4 359 283 14 0 672
GeneDx 32 13 250 118 121 0 534
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 16 1 104 76 25 0 222
Genome-Nilou Lab 10 9 111 64 24 0 218
Illumina Laboratory Services, Illumina 2 0 99 29 44 0 134
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 19 9 44 20 18 0 110
CeGaT Center for Human Genetics Tuebingen 8 3 32 41 8 0 92
Fulgent Genetics, Fulgent Genetics 8 3 62 14 2 0 89
PreventionGenetics, part of Exact Sciences 5 0 27 35 18 0 85
Genome Diagnostics Laboratory, The Hospital for Sick Children 9 3 26 12 16 0 66
ClinGen RASopathy Variant Curation Expert Panel 10 4 8 16 25 0 63
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 12 0 10 14 22 0 58
Breakthrough Genomics, Breakthrough Genomics 0 0 2 11 27 0 40
Mayo Clinic Laboratories, Mayo Clinic 4 0 16 5 12 0 37
Eurofins Ntd Llc (ga) 3 0 17 4 10 0 34
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 30 2 1 0 33
Service de Génétique Moléculaire, Hôpital Robert Debré 0 2 22 7 0 0 31
Revvity Omics, Revvity 5 2 21 1 0 0 29
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 27 27
Blueprint Genetics 9 2 7 1 0 0 19
3billion 11 5 2 0 0 0 18
Baylor Genetics 6 0 9 0 2 0 17
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 6 1 7 0 3 0 17
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 2 1 2 7 2 0 14
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 7 1 4 2 0 0 14
Clinical Genetics, Academic Medical Center 0 0 0 0 11 0 11
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 1 7 0 0 0 10
Dasa 8 0 1 0 0 0 9
Mendelics 0 2 6 1 0 0 9
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 4 1 2 1 0 0 8
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 1 3 4 0 8
OMIM 8 0 0 0 0 0 8
AiLife Diagnostics, AiLife Diagnostics 0 0 7 0 0 0 7
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 7 0 0 7
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 1 1 0 5 0 0 7
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 0 1 3 1 0 6
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 3 1 1 0 0 6
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 5 1 0 0 0 0 6
Laboratory of Genetics, Children's Clinical University Hospital Latvia 1 0 0 4 1 0 6
Neuberg Centre For Genomic Medicine, NCGM 4 0 2 0 0 0 6
New York Genome Center 0 0 6 0 0 0 6
University of Washington Center for Mendelian Genomics, University of Washington 0 0 6 0 0 0 6
Centre of Medical Genetics, University Hospital Muenster 1 0 4 0 0 0 5
Genetic Services Laboratory, University of Chicago 0 0 1 3 1 0 5
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 5 0 0 5
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 5 0 0 0 0 0 5
Molecular Genetics, Centre for Human Genetics 5 0 0 0 0 0 5
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego 0 0 1 1 2 0 4
Clinical Genetics Laboratory, Skane University Hospital Lund 2 0 2 0 0 0 4
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 3 0 0 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 3 0 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 4 0 0 0 0 0 4
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 3 1 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 1 1 2 0 0 0 4
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 2 1 1 0 0 0 4
Athena Diagnostics 1 0 1 1 0 0 3
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 0 1 1 1 0 3
GenomeConnect - CFC International 0 0 0 0 0 3 3
Genomic Medicine Lab, University of California San Francisco 3 0 0 0 0 0 3
Institute of Human Genetics Munich, TUM University Hospital 1 2 0 0 0 0 3
Laan Lab, Human Genetics Research Group, University of Tartu 0 3 0 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 1 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 2 0 0 0 2
Clinical Genomics Laboratory, Stanford Medicine 0 0 2 0 0 0 2
Division of Genetic & Genomic Pathology, Hong Kong Children's Hospital 2 0 0 0 0 0 2
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 2 0 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 1 0 1 0 0 0 2
Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP) 0 0 0 0 0 2 2
Johns Hopkins Genomics, Johns Hopkins University 1 0 1 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 1 1 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 1 0 0 0 2
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 2 0 0 0 0 0 2
Phosphorus, Inc. 0 0 2 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 0 1 0 0 0 2
Variantyx, Inc. 2 0 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 0 1 0 1
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 0 1 0 0 0 1
Center for Human Genetics, Inc, Center for Human Genetics, Inc 1 0 0 0 0 0 1
Center for Medical Genetics, Keio University School of Medicine 0 1 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 1
Centre for Human Genetics 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 0 1
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 1 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 0 1
Department of Genetics, Beijing BioBiggen Technology Co., Ltd. 1 0 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 1
GenePathDx, GenePath diagnostics 1 0 0 0 0 0 1
Genetics Department, Catlab 0 0 1 0 0 0 1
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
Institute Of Reproduction And Development, Obstetrics and Gynecology Hospital, Fudan University 1 0 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 0 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
Klaassen Lab, Charite University Medicine Berlin 0 0 1 0 0 0 1
Laboratorio de Biologia Molecular - Genetica, Hospital de Pediatria Garrahan 0 1 0 0 0 0 1
MVZ Martinsried, Medicover Genetics 0 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1
Medical and Scientific Branch, Hong Kong Genome Institute 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 0 0 1
NHS Central & South Genomic Laboratory Hub 1 0 0 0 0 0 1
OLLIN Analises Genomicas, OLLIN 0 0 1 0 0 0 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 0 1 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 1 0 0 0 0 0 1
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 0 0 1 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1

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