ClinVar Miner

Variants studied for Noonan syndrome 1

Included ClinVar conditions (7):
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
66 18 81 18 6 8 188

Gene and significance breakdown #

Total genes and gene combinations: 12
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PTPN11 41 13 68 16 5 6 140
BRAF 5 3 4 0 0 1 13
SOS1 5 1 3 1 0 0 10
RIT1 7 0 0 0 0 0 7
MAP2K1 1 1 2 0 0 0 4
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: 36
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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
Fulgent Genetics,Fulgent Genetics 19 4 9 1 0 0 33
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
Institute of Human Genetics,Klinikum rechts der Isar 7 2 0 0 0 0 9
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 6 1 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
Baylor Genetics 5 1 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
Mendelics 0 1 3 1 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 5 0 0 0 0 0 5
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
Institute of Human Genetics, University of Leipzig Medical Center 2 0 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
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 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
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

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