ClinVar Miner

Variants studied for Noonan syndrome and Noonan-related syndrome

Included ClinVar conditions (50):
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
376 211 1426 506 341 33 2583

Gene and significance breakdown #

Total genes and gene combinations: 35
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SOS1 27 17 232 69 46 2 354
PTPN11 89 38 119 41 51 6 281
SPRED1 44 7 150 38 30 0 264
RAF1 25 25 166 51 37 2 244
CBL 10 3 136 36 22 0 203
BRAF 46 52 88 32 27 11 200
HRAS, LRRC56 17 9 95 45 12 0 168
SOS2 6 6 85 32 23 1 148
KRAS 21 13 59 42 5 3 133
MAP2K2 9 9 60 38 29 1 128
NRAS 8 0 71 23 9 1 109
SHOC2 3 2 60 16 28 1 104
MAP2K1 17 11 22 18 11 3 67
RRAS 0 0 30 15 4 0 49
RIT1 24 7 14 4 1 1 43
LZTR1 14 7 12 0 0 1 31
MAP2K1, SNAPC5 0 0 11 3 3 0 15
PPP1CB 5 1 0 0 0 0 6
PTPN11, RPL6 0 0 2 1 3 0 5
RRAS2 5 0 0 0 0 0 5
HRAS 0 0 4 0 0 0 4
MRAS 3 1 0 0 0 0 4
A2ML1 0 0 2 1 0 0 3
NF1 0 3 0 0 0 0 3
MKRN2, RAF1 0 0 2 0 0 0 2
ABCG4, C2CD2L, CBL, CCDC153, DPAGT1, HINFP, NLRX1, PDZD3 0 0 1 0 0 0 1
ARF6, DNAAF2, KLHDC1, KLHDC2, LINC01588, LINC01599, LOC100506499, MIR6076, NEMF, POLE2, RN7SL2, RN7SL3, SOS2, VCPKMT 0 0 1 0 0 0 1
ARHGEF2, KHDC4, LAMTOR2, LMNA, MEX3A, RAB25, RIT1, RXFP4, SSR2, UBQLN4 0 0 1 0 0 0 1
ARHGEF33, ATL2, CYP1B1, DHX57, GALM, GEMIN6, HNRNPLL, MORN2, SOS1, SOS1-IT1, SRSF7 0 0 1 0 0 0 1
BBIP1, LOC111875823, LOC116216121, MIR4680, MIR548E, PDCD4, RBM20, SHOC2, SMC3 1 0 0 0 0 0 1
DMPK 0 0 1 0 0 0 1
FAM98B, LINC02694, RASGRP1, SPRED1 1 0 0 0 0 0 1
GJB2 1 0 0 0 0 0 1
MAP2K1, TIPIN 0 0 0 1 0 0 1
TNNT2 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 76
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 205 29 865 288 143 0 1530
Illumina Clinical Services Laboratory,Illumina 1 0 493 158 128 0 724
ClinGen RASopathy Variant Curation Expert Panel 74 22 31 60 128 0 315
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 140 75 0 0 0 0 215
OMIM 125 0 0 0 0 0 125
Integrated Genetics/Laboratory Corporation of America 77 26 1 0 2 0 106
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 25 0 8 8 40 0 81
Fulgent Genetics,Fulgent Genetics 41 5 22 2 0 0 70
Service de Génétique Moléculaire,Hôpital Robert Debré 14 24 14 13 0 0 65
Baylor Genetics 40 3 3 0 12 0 58
GeneDx 11 2 5 2 35 0 55
GeneReviews 41 0 0 0 4 0 45
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 28 0 0 0 0 0 28
Mendelics 5 9 5 4 1 0 24
Blueprint Genetics 15 4 4 0 0 0 23
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 11 1 8 1 0 0 21
Institute of Human Genetics,Klinikum rechts der Isar 13 4 0 0 0 0 17
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 14 1 1 0 0 0 16
GenomeConnect - CFC International 0 0 0 0 0 14 14
Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP) 0 0 0 0 0 13 13
Institute of Human Genetics, University of Leipzig Medical Center 6 4 3 0 0 0 13
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 11 1 0 0 0 0 12
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 5 3 0 1 0 0 9
Center of Genomic medicine, Geneva,University Hospital of Geneva 8 1 0 0 0 0 9
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
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 4 2 1 0 0 0 7
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 3 1 3 0 0 0 7
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 5 1 0 0 0 0 6
Undiagnosed Diseases Network,NIH 3 2 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
Genomic Medicine Theme, NIHR Oxford Biomedical Research Centre,University of Oxford 3 0 3 0 0 0 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 2 1 0 0 0 5
UCLA Clinical Genomics Center, UCLA 2 3 0 0 0 0 5
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 1 4 0 0 0 5
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 4 1 0 0 0 0 5
GenomeConnect, ClinGen 0 0 0 0 0 5 5
Tartaglia Lab, Genetics and Rare Diseases Research Division,Bambino Gesu' Children's Hospital 5 0 0 0 0 0 5
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 3 2 0 0 0 0 5
Institute of Human Genetics,University of Goettingen 0 1 3 0 0 0 4
Genetics Molecular Biology Lab, Hospital Juan P Garrahan 1 0 3 0 0 0 4
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 3 0 0 0 0 0 3
Centogene AG - the Rare Disease Company 2 1 0 0 0 0 3
Yale Center for Mendelian Genomics,Yale University 0 3 0 0 0 0 3
Broad Institute Rare Disease Group,Broad Institute 2 0 1 0 0 0 3
Genomic Medicine Lab, University of California San Francisco 2 0 1 0 0 0 3
Genetic Services Laboratory,University of Chicago 1 0 1 0 0 0 2
Institute of Human Genetics,Cologne University 0 0 2 0 0 0 2
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 2 0 0 0 0 0 2
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 2 0 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 1 0 0 0 0 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 1 0 0 0 0 2
Institute of Molecular Biology and Genetics,Federal Almazov North-West 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
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 1 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 1 0 0 0 2
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
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 1 0 0 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
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 0 1 0 0 0 1
GenePathDx,Causeway Health Care Private Ltd 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: University of Minnesota 0 1 0 0 0 0 1
Kids Research, The Children's Hospital at Westmead 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

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