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
125 84 340 209 35 1 776

Gene and significance breakdown #

Total genes and gene combinations: 32
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
RRAS 0 0 133 103 9 0 245
PTPN11 46 21 27 6 15 0 110
SOS1 21 11 42 16 9 0 95
KRAS 8 6 45 35 0 0 94
RAF1 14 14 18 7 1 0 49
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
RRAS2 2 0 1 0 0 0 3
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
DMPK 0 0 1 0 0 0 1
ERF 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
RASA2 0 0 1 0 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
Labcorp Genetics (formerly Invitae), Labcorp 0 0 132 103 9 0 244
Service de Génétique Moléculaire, Hôpital Robert Debré 15 38 86 50 0 0 189
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 18 0 5 4 20 0 47
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 24 3 4 0 31
ClinGen RASopathy Variant Curation Expert Panel 24 1 0 0 0 0 25
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
Tartaglia Lab, Genetics and Rare Diseases Research Division, Bambino Gesu' Children's Hospital 7 0 0 0 0 0 7
DASA 4 0 0 0 0 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 2 0 3
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
Center for Statistical Genetics, Columbia University 0 0 1 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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