ClinVar Miner

Variants studied for Noonan syndrome 1

Included ClinVar conditions (11):
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
142 89 242 73 16 21 545

Gene and significance breakdown #

Total genes and gene combinations: 25
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PTPN11 78 40 132 34 6 9 271
CHRNG 21 27 40 1 2 0 87
BRAF 7 4 9 23 1 6 49
CHRNG, TIGD1 2 6 36 3 3 1 49
SOS1 11 1 3 1 0 0 16
RIT1 9 0 1 0 0 0 10
LZTR1 0 5 4 0 0 0 9
MAP2K1 1 1 2 3 0 0 7
RAF1 5 2 1 0 0 0 7
CHRND 0 0 3 2 0 0 5
CHRND, CHRNG 0 0 1 4 2 0 5
NRAS 1 0 0 0 0 4 5
CHRNA1 0 0 2 0 2 0 4
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
BRAF, LOC126860202 0 0 1 1 0 0 2
SOS2 1 0 1 0 0 0 2
A2ML1 0 0 1 0 0 0 1
CBL 1 0 0 0 0 0 1
CHRNG, LOC129935864 0 1 0 0 0 0 1
GJB2 1 0 0 0 0 0 1
HRAS, LRRC56 1 0 0 0 0 0 1
NOD2 0 0 1 0 0 0 1
RASA2 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 97
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fulgent Genetics, Fulgent Genetics 40 38 74 46 2 0 200
Illumina Laboratory Services, Illumina 5 0 138 25 14 0 180
Molecular Genetics, Centre for Human Genetics 27 4 6 0 0 0 37
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 27 3 4 0 0 0 34
Baylor Genetics 27 2 1 0 0 0 30
3billion, Medical Genetics 24 2 0 0 0 0 26
OMIM 24 0 0 0 0 0 24
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 22 0 0 0 0 0 22
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 16 2 3 0 0 0 21
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 16 3 0 0 0 0 19
Juno Genomics, Hangzhou Juno Genomics, Inc 15 3 0 0 0 0 18
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 8 4 0 0 0 0 12
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 11 1 0 0 0 0 12
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 11 1 0 0 0 0 12
Neuberg Centre For Genomic Medicine, NCGM 10 1 1 0 0 0 12
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
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
Centre for Human Genetics 2 3 3 0 0 0 8
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 8 0 0 0 0 0 8
Center of Genomic medicine, Geneva, University Hospital of Geneva 5 2 0 0 0 0 7
Institute of Human Genetics, University of Leipzig Medical Center 6 1 0 0 0 0 7
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
Mendelics 0 1 3 1 1 0 6
Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP) 0 0 0 0 0 6 6
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 5 1 0 0 0 0 6
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 5 1 0 0 0 0 6
New York Genome Center 5 0 1 0 0 0 6
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 5 0 1 0 0 0 6
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 3 0 0 0 0 5
Centogene AG - the Rare Disease Company 2 3 0 0 0 0 5
Clinical Genomics Laboratory, Washington University in St. Louis 4 0 1 0 0 0 5
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 2 3 0 0 0 0 5
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 5 0 0 0 0 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 4 0 1 0 0 0 5
DASA 5 0 0 0 0 0 5
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 3 0 1 0 0 0 4
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 4 0 0 0 0 0 4
Institute of Immunology and Genetics Kaiserslautern 4 0 0 0 0 0 4
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 3 0 0 0 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 3 0 0 0 0 0 3
Phosphorus, Inc. 0 0 3 0 0 0 3
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 1 1 1 0 0 0 3
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 3 0 0 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
Lifecell International Pvt. Ltd 3 0 0 0 0 0 3
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 2 1 0 0 0 0 3
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 1 0 0 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 2 0 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 1 1 0 0 0 0 2
Duke University Health System Sequencing Clinic, Duke University Health System 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
Daryl Scott Lab, Baylor College of Medicine 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
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 1 0 0 0 0 2
GenomeConnect - CFC International 0 0 0 0 0 2 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 0 1 0 0 0 2
Molecular Genetics Lab, CHRU Brest 1 1 0 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
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
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 0 1 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
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 0 0 0 0 1
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 0 1 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
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
Suma Genomics 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
Henan Neurodevelopment Engineering Research Center for Children, Children's Hospital Affiliated to Zhengzhou University 1 0 0 0 0 0 1
Department of Genetics, Beijing BioBiggen Technology Co., Ltd. 1 0 0 0 0 0 1
KCCC/NGS Laboratory, Kuwait Cancer Control Center 1 0 0 0 0 0 1
Dr.Nikuei Genetic Center 0 0 0 1 0 0 1

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