ClinVar Miner

Variants studied for Noonan syndrome 1

Coded as:
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
111 36 90 18 6 19 256

Gene and significance breakdown #

Total genes and gene combinations: 17
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PTPN11 71 28 77 16 6 9 185
SOS1 11 1 3 1 0 0 16
BRAF 6 0 0 0 0 5 10
RIT1 9 0 1 0 0 0 10
RAF1 5 2 1 0 0 0 7
LZTR1 0 3 2 0 0 0 5
NRAS 1 0 0 0 0 4 5
MAP2K2 1 1 2 0 0 0 4
KRAS 2 0 0 0 0 1 3
PTPN11, RPL6 0 0 2 1 0 0 3
SOS2 1 0 1 0 0 0 2
A2ML1 0 0 1 0 0 0 1
CBL 1 0 0 0 0 0 1
GJB2 1 0 0 0 0 0 1
HRAS, LRRC56 1 0 0 0 0 0 1
MAP2K1 1 0 0 0 0 0 1
RASA2 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 77
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 5 0 63 15 6 0 89
Molecular Genetics, Centre for Human Genetics 27 4 6 0 0 0 37
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 25 2 4 0 0 0 31
Baylor Genetics 24 2 0 0 0 0 26
3billion 24 2 0 0 0 0 26
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 22 0 0 0 0 0 22
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 16 3 0 0 0 0 19
OMIM 15 0 0 0 0 0 15
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 10 1 2 0 0 0 13
GeneReviews 0 0 0 0 0 11 11
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 6 4 0 1 0 0 11
MGZ Medical Genetics Center 8 2 0 0 0 0 10
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 8 2 0 0 0 0 10
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 10 0 0 0 0 0 10
Center for Human Genetics, Inc, Center for Human Genetics, Inc 8 0 1 0 0 0 9
Genetics and Molecular Pathology, SA Pathology 9 0 0 0 0 0 9
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 4 3 0 0 0 0 7
Genomic Medicine Lab, University of California San Francisco 4 2 1 0 0 0 7
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital 7 0 0 0 0 0 7
Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP) 0 0 0 0 0 6 6
Center of Genomic medicine, Geneva, University Hospital of Geneva 5 1 0 0 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 6 0 0 0 0 0 6
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 5 1 0 0 0 0 6
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 3 0 0 0 0 5
Mendelics 0 1 3 1 0 0 5
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 5 0 0 0 0 0 5
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 5 0 0 0 0 0 5
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 5 0 0 0 0 0 5
DASA 5 0 0 0 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 4 0 1 0 0 0 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 5 0 0 0 0 0 5
Centogene AG - the Rare Disease Company 2 2 0 0 0 0 4
New York Genome Center 4 0 0 0 0 0 4
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 4 0 0 0 0 0 4
Centre for Human Genetics 2 1 0 0 0 0 3
Phosphorus, Inc. 0 0 3 0 0 0 3
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 3 0 0 0 0 0 3
Lifecell International Pvt. Ltd 3 0 0 0 0 0 3
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 2 0 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 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 National Medical Research Centre 2 0 0 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 1 1 0 0 0 0 2
Clinical Genetics Laboratory, Region Ostergotland 2 0 0 0 0 0 2
Department of Human Genetics, University Hospital Magdeburg 0 1 1 0 0 0 2
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 1 1 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 2 0 0 0 0 0 2
Genomics England Pilot Project, Genomics England 1 1 0 0 0 0 2
Institute Of Reproduction And Development, Obstetrics and Gynecology Hospital, Fudan University 2 0 0 0 0 0 2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 1 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 1 0 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 1 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 1 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 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
GenomeConnect - CFC International 0 0 0 0 0 1 1
Molecular Diagnosis Center for Deafness 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 1 0 0 0 0 0 1
Prenatal Genetic Diagnosis Laboratory, The Chinese University of Hong Kong 1 0 0 0 0 0 1
Pediatric Endocrinology Clinic, Ege University School of Medicine 1 0 0 0 0 0 1
Pediatric Genetics Clinic, Sheba 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
Provincial Medical Genetics Program of British Columbia, University of British Columbia 1 0 0 0 0 0 1
Eurofins-Biomnis 1 0 0 0 0 0 1
Department of Genetics, Beijing BioBiggen Technology Co., Ltd. 1 0 0 0 0 0 1
Dr.Nikuei Genetic Center 0 0 0 1 0 0 1

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