ClinVar Miner

Variants studied for Noonan syndrome

Included ClinVar conditions (44):
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
287 254 1642 1010 186 33 3196

Gene and significance breakdown #

Total genes and gene combinations: 46
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SOS2 8 8 556 522 90 1 1126
SOS1 27 29 302 108 38 2 481
PTPN11 82 55 133 38 21 9 292
RIT1 29 21 121 85 5 1 239
RRAS 0 0 115 85 9 0 209
RAF1 24 30 86 28 7 2 150
LZTR1 34 42 80 2 0 3 149
BRAF 22 21 50 36 3 8 127
KRAS 18 17 49 42 1 2 126
NRAS 11 6 62 19 7 5 106
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
MAPK1 4 2 2 0 0 0 8
SPRED1 0 0 4 4 0 0 8
LOC130067016, LZTR1 1 2 4 0 0 0 7
RRAS2 2 2 3 0 1 0 7
LOC130005368, RRAS2 5 1 0 0 0 0 6
MAP2K1, SNAPC5 0 0 4 1 1 0 5
MRAS 3 0 2 0 0 0 5
KRAS, LOC130007561 0 0 4 0 0 0 4
PPP1CB 1 2 0 1 0 0 4
SPRED2 3 1 0 0 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
PTPN11, RPL6 0 0 2 1 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
ATL1, CDKL1, DMAC2L, L2HGDH, MAP4K5, NIN, SAV1, SOS2 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
ERF 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: 148
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 30 5 737 686 81 0 1539
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 87 50 0 0 191
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 117 52 0 0 0 0 169
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 54 10 25 5 0 0 94
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 22 0 8 12 36 0 78
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 1 1 69 3 4 0 78
Baylor Genetics 39 5 31 0 0 0 75
OMIM 67 0 0 0 0 0 67
3billion 44 7 5 3 0 0 59
Juno Genomics, Hangzhou Juno Genomics, Inc 22 11 4 0 0 0 37
Molecular Genetics, Centre for Human Genetics 27 4 6 0 0 0 37
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 19 11 1 0 2 0 33
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 21 4 8 1 0 0 33
Neuberg Centre For Genomic Medicine, NCGM 15 3 14 0 0 0 32
New York Genome Center 8 1 18 0 0 0 27
Institute of Human Genetics, University of Leipzig Medical Center 12 5 8 0 0 0 25
ClinGen RASopathy Variant Curation Expert Panel 24 1 0 0 0 0 25
Revvity Omics, Revvity 6 2 16 0 0 0 24
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 23 0 0 0 0 0 23
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 14 3 4 0 0 0 21
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 16 3 2 0 0 0 21
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 10 9 0 0 0 0 19
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 16 3 0 0 0 0 19
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
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
Clinical Genomics Laboratory, Washington University in St. Louis 2 1 10 0 0 0 13
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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 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
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 4 2 3 0 0 0 9
Centre for Human Genetics 2 3 3 0 0 0 8
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
Institute of Immunology and Genetics Kaiserslautern 6 1 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
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 of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 3 1 2 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
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 4 1 0 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
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 1 2 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
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 3 0 0 0 0 0 3
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
Molecular Genetics, Royal Melbourne Hospital 1 0 2 0 0 0 3
MVZ Medizinische Genetik Mainz 0 0 3 0 0 0 3
Laboratory of Otorhinolaryngology, Head and Neck Surgery, Inje University Ilsan Paik Hospital 2 1 0 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
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 Genetics Laboratory, Skane University Hospital Lund 1 1 0 0 0 0 2
Clinical Genomics Laboratory, 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
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
Henan Neurodevelopment Engineering Research Center for Children, Children's Hospital Affiliated to Zhengzhou University 1 0 0 0 0 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 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
KCCC/NGS Laboratory, Kuwait Cancer Control Center 1 0 0 0 0 0 1
Laboratorio de Biologia Molecular/Medicina Genomica - IFF/Fiocruz, Instituto Fernandes Figueira, Fundacao Oswaldo Cruz 0 1 0 0 0 0 1
Dr.Nikuei Genetic Center 0 0 0 1 0 0 1
Pediatric Department, Beijing Jishuitan Hospital, Capital Medical University 0 1 0 0 0 0 1
Department of Pediatrics, Taizhou Central Hospital, Taizhou University Hospital 1 0 0 0 0 0 1
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 0 0 1 0 0 0 1

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