ClinVar Miner

Variants studied for Noonan syndrome 1

Included ClinVar conditions (5):
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
44 8 14 2 0 7 68

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign not provided total
PTPN11 34 4 6 2 6 45
BRAF 5 3 4 0 0 12
MAP2K1 1 1 2 0 0 4
NRAS 4 0 0 0 0 4
A2ML1 0 0 1 0 0 1
KRAS 0 0 0 0 1 1
RAF1 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign not provided total
Fulgent Genetics 19 4 9 1 0 33
OMIM 15 0 0 0 0 15
GeneReviews 11 0 0 0 0 11
Center for Human Genetics, Inc 8 0 1 0 0 9
Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP) 0 0 0 0 6 6
Center of Genomic medicine, Geneva,University Hospital of Geneva 5 1 0 0 0 6
Baylor Miraca Genetics Laboratories, 4 1 0 0 0 5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 5 0 0 0 0 5
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 3 0 0 0 0 3
Phosphorus, Inc. 0 0 3 0 0 3
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 2 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 1 1 0 0 0 2
Institute of Molecular Biology and Genetics,Federal Almazov North-West Medical Research Centre 2 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 2 0 0 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 1 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 1 1
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology 0 0 0 1 0 1
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 0 1 0 0 0 1
Undiagnosed Diseases Network,NIH 1 0 0 0 0 1

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