ClinVar Miner

Variants studied for Noonan syndrome and Noonan-related syndrome

Included ClinVar conditions (42):
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
306 142 754 444 232 21 1723

Gene and significance breakdown #

Total genes and gene combinations: 27
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SOS1 22 11 122 51 35 2 222
PTPN11 80 24 73 24 34 6 209
SPRED1 30 5 74 49 12 0 162
CBL 16 4 86 35 22 3 160
RAF1 22 23 65 41 13 2 136
BRAF 34 32 40 32 25 1 135
KRAS 20 12 52 43 4 2 126
HRAS, LRRC56 18 8 42 35 12 0 107
MAP2K2 6 5 27 29 28 1 87
SOS2 2 1 33 23 16 1 76
SHOC2 2 1 31 30 14 1 70
NRAS 8 0 40 17 2 1 67
MAP2K1 9 7 13 13 9 0 44
RIT1 19 5 6 2 1 1 29
RRAS 0 0 16 10 3 0 29
LZTR1 12 3 7 0 0 0 21
MAP2K1, SNAPC5 0 0 16 5 2 0 20
MAP2K1, TIPIN 0 0 4 4 0 0 8
PPP1CB 5 0 0 0 0 0 5
A2ML1 0 0 2 0 0 0 2
PTPN11, RPL6 0 0 1 1 0 0 2
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
DMPK 0 0 1 0 0 0 1
FAM98B, LINC02694, RASGRP1, SPRED1 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: 57
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 128 25 391 235 113 0 892
Illumina Clinical Services Laboratory,Illumina 0 0 302 161 6 0 469
ClinGen RASopathy Variant Curation Expert Panel, 48 10 8 47 121 0 234
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 140 70 0 0 0 0 210
OMIM 123 0 0 0 0 0 123
Integrated Genetics/Laboratory Corporation of America 53 17 1 0 2 0 73
Fulgent Genetics 41 5 23 2 0 0 71
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 24 0 7 6 25 0 62
Baylor Miraca Genetics Laboratories, 39 2 3 0 12 0 56
GeneDx 11 1 7 1 35 0 55
GeneReviews 41 0 0 0 4 0 45
Center for Human Genetics, Inc 19 4 4 1 1 0 29
Blueprint Genetics, 15 4 4 0 0 0 23
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 10 0 8 1 0 0 19
Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP) 0 0 0 0 0 16 16
Service de Génétique Moléculaire,Hôpital Robert Debré 11 3 0 0 0 0 14
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 10 0 1 0 0 0 11
Center of Genomic medicine, Geneva,University Hospital of Geneva 8 1 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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 6 1 0 0 0 0 7
Phosphorus, Inc. 0 0 7 0 0 0 7
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 7 0 7
Genomic Medicine Theme, NIHR Oxford Biomedical Research Centre,University of Oxford 3 0 3 0 0 0 6
Institute of Human Genetics,Klinikum rechts der Isar 4 1 0 0 0 0 5
UCLA Clinical Genomics Center, UCLA 2 3 0 0 0 0 5
HudsonAlpha Institute for Biotechnology 3 1 0 1 0 0 5
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 1 4 0 0 0 5
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 4 0 0 0 0 0 4
Genomic Research Center,Shahid Beheshti University of Medical Sciences 2 2 0 0 0 0 4
Institute of Molecular Biology and Genetics,Federal Almazov North-West Medical Research Centre 3 1 0 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Institute of Human Genetics,University of Goettingen 0 1 2 0 0 0 3
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 2 1 0 0 3
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 3 0 0 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,Institute of Human Genetics 1 1 0 0 0 0 2
Donald Williams Parsons Laboratory,Baylor College of Medicine 1 1 0 0 0 0 2
Undiagnosed Diseases Network,NIH 1 1 0 0 0 0 2
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 1 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
Mendelics 1 0 0 0 0 0 1
Mayo Clinic Genetic Testing 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
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 0 1 0 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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 0 1
Genetics Molecular Biology Lab,Hospital Juan P Garrahan 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 0 1 0 0 0 0 1

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