ClinVar Miner

Variants studied for Noonan syndrome

Coded as:
Minimum submission review status: Collection method:
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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
126 92 320 191 37 1 743

Gene and significance breakdown #

Total genes and gene combinations: 30
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
RRAS 0 0 115 85 9 0 209
PTPN11 47 21 28 6 16 0 113
SOS1 21 11 42 16 10 0 96
KRAS 8 6 45 35 0 0 94
RAF1 14 22 18 7 1 0 51
BRAF 3 8 16 5 0 0 30
RIT1 12 5 4 2 0 0 23
NRAS 2 2 8 5 0 0 17
SOS2 2 4 4 7 0 1 17
MAP2K2 0 0 6 5 0 0 11
SHOC2 1 2 5 3 0 0 11
MAP2K1 0 4 1 4 0 0 9
SPRED1 0 0 4 4 0 0 8
CBL 3 3 1 0 0 0 7
HRAS, LRRC56 1 0 3 3 0 0 7
LZTR1 2 2 2 0 0 0 6
MAP2K1, SNAPC5 0 0 4 1 1 0 5
KRAS, LOC130007561 0 0 4 0 0 0 4
LOC130005368, RRAS2 4 0 0 0 0 0 4
PPP1CB 1 2 0 1 0 0 4
SPRED2 3 0 0 0 0 0 3
A2ML1 0 0 1 1 0 0 2
BRAF, LOC126860202 0 0 2 0 0 0 2
LOC129933535, SOS1 0 0 2 0 0 0 2
LOC130063193, MAP2K2 0 0 2 0 0 0 2
RRAS2 2 0 0 0 0 0 2
DMPK 0 0 1 0 0 0 1
LOC129931249, NRAS 0 0 1 0 0 0 1
LOC130055588, SOS2 0 0 1 0 0 0 1
LOC130057340, MAP2K1 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 0 0 114 85 9 0 208
Service de Génétique Moléculaire, Hôpital Robert Debré 15 38 85 50 0 0 188
Illumina Laboratory Services, Illumina 1 0 87 49 0 0 137
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 85 42 0 0 0 0 127
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 20 0 5 4 22 0 51
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 22 3 4 0 29
ClinGen RASopathy Variant Curation Expert Panel 23 1 0 0 0 0 24
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 10 1 4 0 0 0 15
Blueprint Genetics 11 2 2 0 0 0 15
Database of Curated Mutations (DoCM) 0 8 0 0 0 0 8
Tartaglia Lab, Genetics and Rare Diseases Research Division, Bambino Gesu' Children's Hospital 7 0 0 0 0 0 7
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 1 0 2 0 4
DASA 4 0 0 0 0 0 4
Yale Center for Mendelian Genomics, Yale University 0 3 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 0 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 2 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 1 0 1 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 0 0 0 0 1
Donald Williams Parsons Laboratory, Baylor College of Medicine 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
University Health Network, Familial Cancer Clinic, Princess Margaret Cancer Centre 0 1 0 0 0 0 1
Pediatrics, Sichuan Provincial Hospital For Women And Children 1 0 0 0 0 0 1
Laboratory of Otorhinolaryngology, Head and Neck Surgery, Inje University Ilsan Paik Hospital 0 1 0 0 0 0 1

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