ClinVar Miner

Variants studied for Noonan syndrome and Noonan-related syndrome

Included ClinVar conditions (67):
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
538 457 2998 1731 436 77 5746

Gene and significance breakdown #

Total genes and gene combinations: 65
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SOS2 8 7 648 635 99 1 1329
SPRED1 118 35 398 205 45 2 774
HRAS, LRRC56 25 19 269 257 11 1 564
SOS1 27 37 326 116 50 2 515
PTPN11 88 64 172 41 42 17 343
RIT1 29 24 142 106 6 1 280
LZTR1 45 61 143 15 17 3 261
BRAF 48 54 113 49 21 25 249
RRAS 0 0 133 103 9 0 245
RAF1 25 28 102 38 30 5 172
KRAS 26 20 62 44 5 2 148
MAP2K2 10 13 86 22 22 4 139
NRAS 12 9 68 21 7 5 113
SHOC2 5 7 63 15 28 1 107
CHRNG 22 27 40 1 2 0 87
MAP2K1 15 23 37 10 9 7 86
CBL 4 5 34 8 13 0 64
CHRNG, TIGD1 2 6 36 3 3 1 49
LOC130055588, SOS2 0 0 13 15 1 0 28
LOC129933535, SOS1 0 0 8 6 2 0 15
PPP1CB 6 5 2 2 1 0 15
MAP2K1, SNAPC5 0 0 12 3 1 0 14
LOC130067016, LZTR1 1 3 5 1 2 0 12
BRAF, LOC126860202 0 0 9 2 1 0 11
HRAS 0 0 10 0 0 0 10
MAPK1 4 3 2 0 0 0 9
A2ML1 0 0 6 1 0 0 7
LOC130005368, RRAS2 5 2 0 0 0 0 7
RRAS2 2 2 3 0 1 0 7
KRAS, LOC130007561 0 0 6 0 0 0 6
LOC130004755, SHOC2 0 0 6 0 0 0 6
MRAS 3 0 3 0 0 0 6
CBL, FRA11B, LOC130006894 0 0 5 0 0 0 5
CHRND 0 0 3 2 0 0 5
CHRND, CHRNG 0 0 1 4 2 0 5
LOC130063193, MAP2K2 0 0 5 0 0 0 5
CBL, LOC130006895 0 0 2 1 1 0 4
CHRNA1 0 0 2 0 2 0 4
SPRED2 3 1 0 0 0 0 4
LOC129931249, NRAS 0 0 2 1 0 0 3
LOC130056789, SPRED1 0 0 2 1 0 0 3
MKRN2, RAF1 0 0 2 1 1 0 3
PTPN11, RPL6 0 0 2 1 1 0 3
LOC130056788, SPRED1 0 0 1 0 1 0 2
RASA2 0 1 1 0 0 0 2
​intergenic 0 0 1 0 0 0 1
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
CDHR5, CEND1, DEAF1, DRD4, EPS8L2, GATD1, HRAS, IRF7, LMNTD2, LRRC56, MIR210, MIR210HG, PHRF1, PIDD1, PNPLA2, RASSF7, RPLP2, SCT, SLC25A22, TALDO1, TMEM80 0 0 1 0 0 0 1
CDKL4, MAP4K3, SOS1 0 0 1 0 0 0 1
CHRNG, LOC129935864 0 1 0 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
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
NOD2 0 0 1 0 0 0 1
PIK3CA 1 0 0 0 0 0 1
TNNT2 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 187
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 149 21 1426 1268 116 0 2980
Illumina Laboratory Services, Illumina 12 0 578 168 136 0 836
Fulgent Genetics, Fulgent Genetics 70 56 379 94 6 0 605
Genome Diagnostics Laboratory, The Hospital for Sick Children 80 36 197 81 145 0 539
Genome-Nilou Lab 27 19 205 153 99 0 503
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 141 78 0 0 0 0 219
Service de Génétique Moléculaire, Hôpital Robert Debré 16 51 95 53 0 0 215
OMIM 141 0 0 0 0 0 141
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 3 3 109 3 4 0 122
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 21 1 18 23 57 0 120
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 75 10 26 5 0 0 116
3billion 81 22 7 4 0 0 114
Baylor Genetics 54 6 49 0 0 0 109
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 52 17 0 0 2 0 71
Juno Genomics, Hangzhou Juno Genomics, Inc 38 14 4 0 0 0 56
ClinGen RASopathy Variant Curation Expert Panel 39 10 4 1 2 0 56
Department of Pathology and Laboratory Medicine, Sinai Health System 2 5 22 15 9 0 53
Neuberg Centre For Genomic Medicine, NCGM 26 6 16 0 0 0 48
GeneReviews 0 0 0 0 2 43 45
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 27 7 10 0 0 0 44
Revvity Omics, Revvity 10 3 29 0 0 0 42
Institute of Human Genetics, University of Leipzig Medical Center 18 11 11 0 0 0 40
Clinical Genomics Laboratory, Washington University in St. Louis 7 6 24 0 0 0 37
New York Genome Center 8 1 28 0 0 0 37
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
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 26 6 3 0 0 0 35
Center for Human Genetics, Inc, Center for Human Genetics, Inc 19 4 4 1 1 0 29
Mendelics 8 11 4 4 2 0 29
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 29 0 0 0 0 0 29
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 16 11 0 0 0 0 27
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 23 2 1 0 0 0 26
Centre for Mendelian Genomics, University Medical Centre Ljubljana 14 0 9 0 2 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
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 12 5 4 0 0 0 21
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 11 1 8 0 0 0 20
GenomeConnect - CFC International 0 0 0 0 0 20 20
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 15 2 0 0 0 0 17
Genomic Medicine Lab, University of California San Francisco 13 3 1 0 0 0 17
DASA 17 0 0 0 0 0 17
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 9 7 0 0 0 0 16
Genetics and Molecular Pathology, SA Pathology 13 0 3 0 0 0 16
Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP) 0 0 0 0 0 13 13
Centre for Human Genetics 7 3 3 0 0 0 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 3 0 0 0 0 12
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 7 2 2 0 0 0 11
Centogene AG - the Rare Disease Company 6 4 1 0 0 0 11
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 8 3 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
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 6 2 3 0 0 0 11
KCCC/NGS Laboratory, Kuwait Cancer Control Center 1 0 0 3 7 0 11
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 5 2 3 0 0 0 10
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 4 2 4 0 0 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
Center of Human Genetics, Hôpital Erasme 7 2 0 0 0 0 9
Laboratorio de Biologia Molecular - Genetica, Hospital de Pediatria Garrahan 1 2 5 0 0 0 8
Clinical Genomics Laboratory, Stanford Medicine 1 0 7 0 0 0 8
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 5 1 2 0 0 0 8
Institute of Immunology and Genetics Kaiserslautern 7 1 0 0 0 0 8
MVZ Medizinische Genetik Mainz 0 2 6 0 0 0 8
Institute of Human Genetics, University of Goettingen 1 1 5 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
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
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 6 0 0 0 0 0 6
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 2 2 0 0 0 6
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 2 4 0 0 0 0 6
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 4 2 0 0 0 0 6
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 4 2 0 0 0 0 6
Daryl Scott Lab, Baylor College of Medicine 4 1 1 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
Clinical and Biomedical Sciences, University of Exeter 3 0 3 0 0 0 6
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 4 2 0 0 0 0 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 2 1 0 0 0 5
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 2 2 1 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
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
Genomics England Pilot Project, Genomics England 3 2 0 0 0 0 5
Duke University Health System Sequencing Clinic, Duke University Health System 3 1 0 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
GenomeConnect, ClinGen 0 0 0 0 0 4 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
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 3 0 0 0 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
Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 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
Laboratory of Otorhinolaryngology, Head and Neck Surgery, Inje University Ilsan Paik Hospital 2 1 0 0 0 0 3
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 1 0 0 0 0 2
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
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 1 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
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
University of Washington Department of Laboratory Medicine, University of Washington 0 1 1 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 2 0 0 0 2
Clinical Genetics Laboratory, Skane University Hospital Lund 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
Genomics, Clalit Research Institute, Clalit Health Care 0 2 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
Department of Human Genetics, Hannover Medical School 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
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 1 1 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
Mayo Clinic Laboratories, Mayo Clinic 1 0 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
Clinical Genetics and Genomics, Karolinska University Hospital 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
Center for Statistical Genetics, Columbia University 0 0 1 0 0 0 1
GenePathDx, GenePath diagnostics 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 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
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 1 0 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 1 0 0 0 1
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 0 1 0 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
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 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
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
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 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
Henan Neurodevelopment Engineering Research Center for Children, Children's Hospital Affiliated to Zhengzhou University 1 0 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 1
Medical Genetics Clinic, University of Catania 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
Laboratorio de Biologia Molecular/Medicina Genomica - IFF/Fiocruz, Instituto Fernandes Figueira, Fundacao Oswaldo Cruz 0 1 0 0 0 0 1
Genetic Laboratory, Lianyungang Maternal and Child Health Hospital Affiliated to Kangda College of Nanjing Medical University 1 0 0 0 0 0 1
Dr.Nikuei Genetic Center 0 0 0 1 0 0 1
Department of Clinical Genetics, Medical University of Lodz 0 1 0 0 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
Department of Human Genetics, University Hospital Bern, Inselspital 0 1 0 0 0 0 1
Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University 0 1 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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