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
72 18 74 17 6 8 180

Gene and significance breakdown #

Total genes and gene combinations: 11
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PTPN11 49 17 67 15 5 6 144
SOS1 5 1 3 1 0 0 10
RIT1 7 0 0 0 0 0 7
BRAF 4 0 0 0 0 1 5
NRAS 4 0 0 0 0 0 4
PTPN11, RPL6 0 0 2 1 1 0 4
RAF1 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
KRAS 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 38
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 1 0 62 15 6 0 84
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 22 0 0 0 0 0 22
OMIM 15 0 0 0 0 0 15
Baylor Genetics 13 1 0 0 0 0 14
GeneReviews 11 0 0 0 0 0 11
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 6 4 0 1 0 0 11
Center for Human Genetics, Inc,Center for Human Genetics, Inc 8 0 1 0 0 0 9
Institute of Human Genetics, Klinikum rechts der Isar 7 2 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
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
Mendelics 0 1 3 1 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
Genomic Medicine Lab, University of California San Francisco 2 2 1 0 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 3 0 1 0 0 0 4
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 2 1 0 0 0 0 3
Phosphorus, Inc. 0 0 3 0 0 0 3
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 2 0 0 0 0 0 2
Centogene AG - the Rare Disease Company 1 1 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 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
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
Genomics England Pilot Project,Genomics England 1 1 0 0 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 1 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 1 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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 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 Institute Rare Disease Group, Broad Institute 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
Pediatric Endocrinology Clinic,Ege University School of Medicine 1 0 0 0 0 0 1

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