ClinVar Miner

Variants studied for Noonan syndrome

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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
264 226 1593 1005 186 33 3110

Gene and significance breakdown #

Total genes and gene combinations: 44
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SOS2 8 7 550 522 90 1 1120
SOS1 27 28 293 108 38 2 471
PTPN11 78 50 131 37 21 9 285
RIT1 29 20 118 84 5 1 236
RRAS 0 0 115 85 9 0 209
RAF1 20 28 84 26 7 2 143
BRAF 20 21 50 36 3 8 126
KRAS 17 15 49 42 1 2 123
LZTR1 24 28 60 1 0 3 109
NRAS 9 6 62 19 7 5 105
LOC130055588, SOS2 0 0 10 10 1 0 20
MAP2K1 2 4 3 7 0 0 16
MAP2K2 1 3 8 5 0 0 16
LOC129933535, SOS1 0 0 7 5 2 0 14
SHOC2 1 2 7 3 0 0 13
HRAS, LRRC56 2 2 3 3 0 0 10
BRAF, LOC126860202 0 0 8 1 0 0 9
CBL 4 3 1 0 0 0 8
SPRED1 0 0 4 4 0 0 8
LOC130067016, LZTR1 1 2 4 0 0 0 7
MAPK1 4 2 1 0 0 0 7
LOC130005368, RRAS2 5 1 0 0 0 0 6
MAP2K1, SNAPC5 0 0 4 1 1 0 5
RRAS2 2 1 1 0 1 0 5
KRAS, LOC130007561 0 0 4 0 0 0 4
PPP1CB 1 2 0 1 0 0 4
A2ML1 0 0 2 1 0 0 3
LOC129931249, NRAS 0 0 2 1 0 0 3
MKRN2, RAF1 0 0 2 1 0 0 3
MRAS 3 0 0 0 0 0 3
PTPN11, RPL6 0 0 2 1 0 0 3
SPRED2 3 0 0 0 0 0 3
LOC130063193, MAP2K2 0 0 2 0 0 0 2
ARHGEF2, KHDC4, LAMTOR2, LMNA, MEX3A, RAB25, RIT1, RXFP4, SSR2, UBQLN4 0 0 1 0 0 0 1
BRAF, LOC129999507 0 0 1 0 0 0 1
CLTC 1 0 0 0 0 0 1
DAP3, GON4L, MSTO1, RIT1, SYT11, YY1AP1 0 0 1 0 0 0 1
DMPK 0 0 1 0 0 0 1
GJB2 1 0 0 0 0 0 1
L2HGDH, SOS2 0 0 1 0 0 0 1
LOC129389024, LOC129936177, LOC129936178, LOC129936179, LOC129936180, LOC129936181, LOC129936182, LOC129936183, LOC129936184, LOC129936185, RAF1, TMEM40 0 0 1 0 0 0 1
LOC130057340, MAP2K1 0 0 0 1 0 0 1
PIK3CA 1 0 0 0 0 0 1
RASA2 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 135
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 30 5 732 686 81 0 1534
Illumina Laboratory Services, Illumina 7 0 380 127 30 0 544
Genome-Nilou Lab 27 19 205 153 87 0 491
Fulgent Genetics, Fulgent Genetics 49 15 141 75 5 0 285
Service de Génétique Moléculaire, Hôpital Robert Debré 15 39 86 50 0 0 190
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 117 52 0 0 0 0 169
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 22 0 8 12 36 0 78
Baylor Genetics 35 4 30 0 0 0 69
OMIM 67 0 0 0 0 0 67
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 1 58 3 4 0 66
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 31 4 17 4 0 0 56
3billion 44 7 5 0 0 0 56
Molecular Genetics, Centre for Human Genetics 27 4 6 0 0 0 37
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 21 4 8 1 0 0 33
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 17 9 1 0 2 0 29
Revvity Omics, Revvity 6 2 16 0 0 0 24
ClinGen RASopathy Variant Curation Expert Panel 23 1 0 0 0 0 24
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 23 0 0 0 0 0 23
New York Genome Center 3 1 18 0 0 0 22
Institute of Human Genetics, University of Leipzig Medical Center 11 3 7 0 0 0 21
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 10 9 0 0 0 0 19
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 14 3 2 0 0 0 19
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 16 3 0 0 0 0 19
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 10 2 6 0 0 0 18
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 10 6 0 1 0 0 17
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 10 1 5 0 0 0 16
MGZ Medical Genetics Center 13 2 1 0 0 0 16
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 15 0 1 0 0 0 16
Blueprint Genetics 11 2 2 0 0 0 15
Genetics and Molecular Pathology, SA Pathology 12 0 3 0 0 0 15
DASA 15 0 0 0 0 0 15
Neuberg Centre For Genomic Medicine, NCGM 9 1 5 0 0 0 15
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 10 4 1 0 0 0 15
Genomic Medicine Lab, University of California San Francisco 10 3 1 0 0 0 14
Center for Human Genetics, Inc, Center for Human Genetics, Inc 9 0 1 1 0 0 11
GeneReviews 0 0 0 0 0 11 11
Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP) 0 0 0 0 0 11 11
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 9 2 0 0 0 0 11
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 7 4 0 0 0 0 11
Mendelics 2 3 3 2 0 0 10
Center of Genomic medicine, Geneva, University Hospital of Geneva 8 2 0 0 0 0 10
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 6 1 3 0 0 0 10
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 5 4 0 0 0 0 9
Department of Human Genetics, University Hospital Magdeburg 6 2 1 0 0 0 9
Database of Curated Mutations (DoCM) 0 8 0 0 0 0 8
Centogene AG - the Rare Disease Company 4 3 0 0 0 0 7
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 1 5 0 0 0 7
Tartaglia Lab, Genetics and Rare Diseases Research Division, Bambino Gesu' Children's Hospital 7 0 0 0 0 0 7
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital 7 0 0 0 0 0 7
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 6 0 0 0 0 0 6
Phosphorus, Inc. 0 0 6 0 0 0 6
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 4 2 0 0 0 0 6
Laboratorio de Biologia Molecular - Genetica, Hospital de Pediatria Garrahan 1 1 4 0 0 0 6
Genomic Medicine Theme, NIHR Oxford Biomedical Research Centre, University of Oxford 3 0 3 0 0 0 6
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 3 2 0 0 0 0 5
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 3 1 1 0 0 0 5
GenomeConnect - CFC International 0 0 0 0 0 5 5
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 3 0 2 0 0 0 5
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 2 0 3 0 0 0 5
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 5 0 0 0 0 0 5
Institute Of Reproduction And Development, Obstetrics and Gynecology Hospital, Fudan University 4 1 0 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 2 0 0 0 0 4
Clinical Genomics Laboratory, Washington University in St. Louis 1 1 2 0 0 0 4
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 1 2 0 0 0 4
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 3 1 0 0 0 0 4
Undiagnosed Diseases Network, NIH 3 0 1 0 0 0 4
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 3 1 0 0 0 0 4
Genomics England Pilot Project, Genomics England 2 2 0 0 0 0 4
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 2 0 1 0 0 0 3
UCLA Clinical Genomics Center, UCLA 2 1 0 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 3 0 0 0 3
Center for Molecular Medicine, Children’s Hospital of Fudan University 1 2 0 0 0 0 3
Yale Center for Mendelian Genomics, Yale University 0 3 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Johns Hopkins Genomics, Johns Hopkins University 1 0 2 0 0 0 3
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 2 1 0 0 0 0 3
Institute of Human Genetics, University Hospital Muenster 2 0 1 0 0 0 3
Lifecell International Pvt. Ltd 3 0 0 0 0 0 3
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 2 0 1 0 0 0 3
Molecular Genetics, Royal Melbourne Hospital 1 0 2 0 0 0 3
Institute of Human Genetics, University of Goettingen 0 0 2 0 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 2 0 0 0 0 0 2
Institute of Human Genetics, Cologne University 0 0 2 0 0 0 2
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 2 0 0 0 0 0 2
Duke University Health System Sequencing Clinic, Duke University Health System 2 0 0 0 0 0 2
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 2 0 0 0 0 0 2
Institute Of Molecular Biology And Genetics, Federal Almazov National Medical Research Centre 2 0 0 0 0 0 2
Donald Williams Parsons Laboratory, Baylor College of Medicine 1 1 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 0 0 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 1 0 1 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 1 1 0 0 0 0 2
Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital 1 1 0 0 0 0 2
Clinical Genetics Laboratory, Region Ostergotland 2 0 0 0 0 0 2
Clinical Genomics Program, Stanford Medicine 0 0 2 0 0 0 2
Prenatal Genetic Diagnosis Laboratory, The Chinese University of Hong Kong 2 0 0 0 0 0 2
Molecular Genetics Lab, CHRU Brest 1 1 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Department of Pediatrics, The University of Tokyo 1 1 0 0 0 0 2
Provincial Medical Genetics Program of British Columbia, University of British Columbia 2 0 0 0 0 0 2
Eurofins-Biomnis 2 0 0 0 0 0 2
Department of Genetics, Beijing BioBiggen Technology Co., Ltd. 2 0 0 0 0 0 2
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 2 0 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 0 1 0 0 0 1
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 0 1 0 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 1 0 0 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 0 1 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 1 1
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 0 0 1 0 0 0 1
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 1 0 0 0 0 0 1
Laboratory of Human Genetics, Universidade de São Paulo 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 0 1
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 0 0 1 0 0 0 1
GenePathDx, GenePath diagnostics 1 0 0 0 0 0 1
MVZ Praenatalmedizin und Genetik Nuernberg 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 1 0 0 0 1
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 0 1
Department of Paediatrics and Adolescent Medicine, The University of Hong Kong 1 0 0 0 0 0 1
Genetics Laboratory, Instituto de Ciencias en Reproduccion Humana 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 0 0 0 0 1
Molecular Diagnosis Center for Deafness 1 0 0 0 0 0 1
Pediatric Endocrinology Clinic, Ege University School of Medicine 1 0 0 0 0 0 1
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 1 0 0 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 1
University Health Network, Familial Cancer Clinic, Princess Margaret Cancer Centre 0 1 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Department of Pediatrics, The Affiliated Hospital of Qingdao University 1 0 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 0 1 0 0 0 1
Pediatrics, Sichuan Provincial Hospital For Women And Children 1 0 0 0 0 0 1
Molecular Biology Laboratory, Department of Zoology, Quaid-i-azam University 0 1 0 0 0 0 1
Medizinische Genetik Mainz, Limbach Genetics GmbH 0 0 1 0 0 0 1

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