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
59 12 73 17 6 8 167

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 36 11 65 15 5 6 130
SOS1 5 1 4 1 0 0 11
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: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 62 15 6 0 83
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 22 0 0 0 0 0 22
OMIM 15 0 0 0 0 0 15
GeneReviews 11 0 0 0 0 0 11
Center for Human Genetics, Inc,Center for Human Genetics, Inc 8 0 1 0 0 0 9
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 4 1 0 0 6
Institute of Human Genetics,Klinikum rechts der Isar 4 2 0 0 0 0 6
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
Baylor Genetics 4 1 0 0 0 0 5
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 2 0 1 0 0 5
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 4 0 0 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
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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 2 0 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
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
Genomic Medicine Lab, University of California San Francisco 0 0 1 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

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