ClinVar Miner

Variants studied for Noonan syndrome and Noonan-related syndrome

Included ClinVar conditions (63):
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
456 355 2469 1508 411 75 4843

Gene and significance breakdown #

Total genes and gene combinations: 53
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SOS2 8 7 552 522 94 1 1121
SPRED1 100 30 357 185 40 2 692
HRAS, LRRC56 25 17 263 241 11 1 542
SOS1 27 31 310 116 50 2 496
PTPN11 84 55 145 39 42 17 306
RIT1 29 20 122 86 5 1 237
RRAS 0 0 115 85 9 0 209
BRAF 46 52 76 45 21 24 206
RAF1 23 31 97 36 30 5 164
LZTR1 25 33 74 6 14 3 144
KRAS 21 17 54 44 5 2 132
NRAS 10 8 66 21 7 5 110
SHOC2 3 6 61 14 27 1 104
MAP2K2 9 13 40 20 21 4 92
CBL 4 5 34 8 13 0 64
MAP2K1 13 19 15 10 9 7 60
LOC130055588, SOS2 0 0 11 10 1 0 21
LOC129933535, SOS1 0 0 8 6 2 0 15
PPP1CB 6 4 1 2 1 0 13
BRAF, LOC126860202 0 0 8 2 1 0 10
LOC130067016, LZTR1 1 2 4 1 2 0 10
HRAS 0 0 8 0 0 0 8
MAP2K1, SNAPC5 0 0 6 2 1 0 8
MAPK1 4 2 1 0 0 0 7
KRAS, LOC130007561 0 0 6 0 0 0 6
LOC130004755, SHOC2 0 0 6 0 0 0 6
LOC130005368, RRAS2 5 1 0 0 0 0 6
CBL, FRA11B, LOC130006894 0 0 5 0 0 0 5
RRAS2 2 1 1 0 1 0 5
CBL, LOC130006895 0 0 2 1 1 0 4
A2ML1 0 0 2 1 0 0 3
LOC129931249, NRAS 0 0 2 1 0 0 3
LOC130056789, SPRED1 0 0 2 1 0 0 3
LOC130063193, MAP2K2 0 0 3 0 0 0 3
MKRN2, RAF1 0 0 2 1 1 0 3
MRAS 3 0 0 0 0 0 3
PTPN11, RPL6 0 0 2 1 1 0 3
SPRED2 3 0 0 0 0 0 3
LOC130056788, SPRED1 0 0 1 0 1 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
FAM98B, LINC02694, LOC105370781, LOC126862106, LOC126862107, LOC126862108, LOC129390685, LOC130056790, LOC130056791, LOC130056792, LOC130056793, LOC130056794, LOC130056795, LOC130056796, LOC130056797, LOC130056798, LOC130056799, LOC130056800, LOC130056801, LOC130056802, LOC130056803, LOC130056804, LOC130056805, LOC130056806, RASGRP1, SPRED1 1 0 0 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
LOC129390685, SPRED1 1 0 0 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
TNNT2 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 155
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 129 21 1254 1082 105 0 2591
Illumina Laboratory Services, Illumina 10 0 503 158 128 0 743
Genome Diagnostics Laboratory, The Hospital for Sick Children 78 33 202 81 145 0 539
Genome-Nilou Lab 27 19 205 153 99 0 503
Fulgent Genetics, Fulgent Genetics 55 15 161 87 6 0 324
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 141 78 0 0 0 0 219
Service de Génétique Moléculaire, Hôpital Robert Debré 15 51 95 53 0 0 214
OMIM 132 0 0 0 0 0 132
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 23 1 14 18 57 0 113
Baylor Genetics 47 5 47 0 0 0 99
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 1 75 3 4 0 83
3billion 63 14 5 0 0 0 82
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 44 4 18 4 0 0 70
ClinGen RASopathy Variant Curation Expert Panel 49 12 5 1 2 0 69
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 44 14 1 0 2 0 61
GeneReviews 0 0 0 0 2 43 45
Revvity Omics, Revvity 10 3 29 0 0 0 42
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 23 4 8 1 0 0 35
Institute of Human Genetics, University of Leipzig Medical Center 15 9 8 0 0 0 32
Center for Human Genetics, Inc, Center for Human Genetics, Inc 19 4 4 1 1 0 29
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 29 0 0 0 0 0 29
Mendelics 8 11 4 4 1 0 28
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 21 4 3 0 0 0 28
New York Genome Center 3 1 24 0 0 0 28
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 16 2 10 0 0 0 28
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 16 9 0 0 0 0 25
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 22 2 1 0 0 0 25
MGZ Medical Genetics Center 16 5 3 0 0 0 24
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 21 3 0 0 0 0 24
Blueprint Genetics 15 4 4 0 0 0 23
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 13 6 1 1 0 0 21
Centre for Mendelian Genomics, University Medical Centre Ljubljana 11 0 8 0 2 0 21
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 11 1 8 0 0 0 20
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 12 5 3 0 0 0 20
Neuberg Centre For Genomic Medicine, NCGM 13 1 5 0 0 0 19
GenomeConnect - CFC International 0 0 0 0 0 18 18
Genomic Medicine Lab, University of California San Francisco 13 3 1 0 0 0 17
DASA 17 0 0 0 0 0 17
Genetics and Molecular Pathology, SA Pathology 13 0 3 0 0 0 16
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 8 6 0 0 0 0 14
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 12 2 0 0 0 0 14
Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP) 0 0 0 0 0 13 13
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 8 5 0 0 0 0 13
Center of Genomic medicine, Geneva, University Hospital of Geneva 9 2 0 0 0 0 11
Tartaglia Lab, Genetics and Rare Diseases Research Division, Bambino Gesu' Children's Hospital 8 3 0 0 0 0 11
Centogene AG - the Rare Disease Company 6 3 1 0 0 0 10
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 6 1 3 0 0 0 10
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 3 7 0 10
Department of Human Genetics, University Hospital Magdeburg 6 2 1 0 0 0 9
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital 9 0 0 0 0 0 9
Database of Curated Mutations (DoCM) 0 8 0 0 0 0 8
Laboratorio de Biologia Molecular - Genetica, Hospital de Pediatria Garrahan 1 2 5 0 0 0 8
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 3 2 3 0 0 0 8
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 4 2 1 0 0 0 7
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 7 0 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
Undiagnosed Diseases Network, NIH 4 2 1 0 0 0 7
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 4 3 0 0 0 0 7
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 7 0 0 0 0 0 7
Institute Of Reproduction And Development, Obstetrics and Gynecology Hospital, Fudan University 6 1 0 0 0 0 7
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 2 2 0 0 0 6
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 4 2 0 0 0 0 6
Phosphorus, Inc. 0 0 6 0 0 0 6
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 6 0 6
Genomic Medicine Theme, NIHR Oxford Biomedical Research Centre, University of Oxford 3 0 3 0 0 0 6
Institute of Human Genetics, University of Goettingen 0 1 4 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 2 1 0 0 0 5
Clinical Genomics Laboratory, Washington University in St. Louis 1 1 3 0 0 0 5
UCLA Clinical Genomics Center, UCLA 2 3 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 3 2 0 0 0 0 5
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 3 1 1 0 0 0 5
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 3 0 2 0 0 0 5
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 4 0 1 0 0 0 5
Genomics England Pilot Project, Genomics England 3 2 0 0 0 0 5
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 2 1 1 0 0 0 4
Center for Molecular Medicine, Children’s Hospital of Fudan University 2 2 0 0 0 0 4
Yale Center for Mendelian Genomics, Yale University 0 4 0 0 0 0 4
Lifecell International Pvt. Ltd 3 1 0 0 0 0 4
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 3 0 0 0 0 0 3
Institute of Human Genetics, Cologne University 0 0 3 0 0 0 3
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 3 0 0 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 3 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
Clinical Genomics Program, Stanford Medicine 1 0 2 0 0 0 3
Institute of Human Genetics, University Hospital Muenster 2 0 1 0 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
Pediatric Genetics Clinic, Sheba Medical Center 3 0 0 0 0 0 3
Molecular Genetics, Royal Melbourne Hospital 1 0 2 0 0 0 3
Provincial Medical Genetics Program of British Columbia, University of British Columbia 3 0 0 0 0 0 3
Medizinische Genetik Mainz, Limbach Genetics GmbH 0 1 2 0 0 0 3
Genetic Services Laboratory, University of Chicago 1 0 1 0 0 0 2
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 2 0 0 0 0 0 2
Duke University Health System Sequencing Clinic, Duke University Health System 2 0 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 1 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 2 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
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 DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 1 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 1 0 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
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 2 0 0 0 0 0 2
Department of Pediatrics, The University of Tokyo 1 1 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
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
Genetic Testing Lab, University of Kentucky College of Medicine 1 0 0 0 0 0 1
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 0 0 1 0 0 0 1
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf 1 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 1 0 0 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
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 1 0 0 0 0 0 1
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 0 0 1 0 0 0 1
Medical Genetic Institute of Henan Province, Henan Provincial People’s Hospital 1 0 0 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
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 1 0 0 0 1
Kids Research, The Children's Hospital at Westmead 1 0 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 1 0 0 0 0 0 1
Breda Genetics srl 1 0 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 0 1
Coyote Medical Laboratory (Beijing), Coyote 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
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 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
MNM Diagnostics 1 0 0 0 0 0 1
Shieh Lab, University of California, San Francisco 1 0 0 0 0 0 1
Pediatric Endocrinology Clinic, Ege University School of Medicine 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
Department of Endocrinology and Genetics, Fuzhou Children’s Hospital of Fujian Medical University 1 0 0 0 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 1 0 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
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 1 0 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

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