ClinVar Miner

Variants studied for Noonan syndrome and Noonan-related syndrome

Included ClinVar conditions (48):
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
333 186 903 292 190 26 1749

Gene and significance breakdown #

Total genes and gene combinations: 32
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SOS1 23 16 140 40 35 2 236
PTPN11 83 31 83 18 34 6 219
SPRED1 35 5 85 32 6 0 160
BRAF 42 50 48 26 22 7 155
RAF1 24 25 90 27 14 2 154
KRAS 21 14 55 40 3 3 129
CBL 9 3 97 11 7 0 125
HRAS, LRRC56 18 8 60 6 9 0 95
MAP2K2 8 7 37 17 28 1 89
SHOC2 2 1 34 29 13 1 72
NRAS 8 0 43 14 1 1 67
SOS2 2 4 45 6 5 1 62
MAP2K1 10 11 14 13 10 1 49
RIT1 22 6 9 0 0 1 31
LZTR1 13 4 12 0 0 0 27
MAP2K1, SNAPC5 0 0 19 5 2 0 24
RRAS 0 0 19 3 1 0 23
MAP2K1, TIPIN 0 0 4 4 0 0 8
PPP1CB 5 0 0 0 0 0 5
RRAS2 5 0 0 0 0 0 5
A2ML1 0 0 2 0 0 0 2
PTPN11, RPL6 0 0 1 1 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
MRAS 0 1 0 0 0 0 1
TNNT2 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 70
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 156 27 523 61 9 0 776
Illumina Clinical Services Laboratory,Illumina 0 0 302 161 6 0 469
ClinGen RASopathy Variant Curation Expert Panel 57 17 12 48 120 0 254
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 140 75 0 0 0 0 215
OMIM 114 0 0 0 0 0 114
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 25 0 8 8 40 0 81
Integrated Genetics/Laboratory Corporation of America 55 16 1 0 2 0 74
Fulgent Genetics,Fulgent Genetics 41 5 22 2 0 0 70
Service de Génétique Moléculaire,Hôpital Robert Debré 11 22 14 12 0 0 59
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 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 6 4 1 0 25
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
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 14 1 1 0 0 0 16
Institute of Human Genetics,Klinikum rechts der Isar 9 4 0 0 0 0 13
Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP) 0 0 0 0 0 13 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
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
GenomeConnect - CFC International 0 0 0 0 0 8 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
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
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
Undiagnosed Diseases Network,NIH 3 1 1 0 0 0 5
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 4 1 0 0 0 0 5
Tartaglia Lab, Genetics and Rare Diseases Research Division,Bambino Gesu' Children's Hospital 5 0 0 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 2 0 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Genetics Molecular Biology Lab, Hospital Juan P Garrahan 1 0 3 0 0 0 4
Institute of Human Genetics,University of Goettingen 0 1 2 0 0 0 3
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 3 0 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
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 2 0 0 0 0 0 2
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 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 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
Department of Human Genetics,University Hospital Magdeburg 0 1 1 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
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 2 0 0 0 0 2
Institute of Human Genetics,Cologne University 0 0 1 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
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
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
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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