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
114 63 280 131 29 1 602

Gene and significance breakdown #

Total genes and gene combinations: 20
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PTPN11 46 13 50 9 15 0 131
SOS1 21 8 63 21 12 0 119
KRAS 8 4 47 35 0 0 94
RAF1 13 19 25 12 0 0 62
NRAS 2 0 35 13 0 0 50
BRAF 3 7 12 17 1 0 39
RRAS 0 0 19 3 1 0 23
MAP2K1, SNAPC5 0 0 14 4 0 0 18
RIT1 12 4 1 0 0 0 17
MAP2K1 0 2 2 8 0 0 12
MAP2K1, TIPIN 0 0 4 4 0 0 8
MAP2K2 0 0 4 3 0 0 7
CBL 2 3 1 0 0 0 6
RRAS2 5 0 0 0 0 0 5
SOS2 0 3 0 0 0 1 4
HRAS, LRRC56 1 0 0 1 0 0 2
PTPN11, RPL6 0 0 1 1 0 0 2
A2ML1 0 0 1 0 0 0 1
DMPK 0 0 1 0 0 0 1
SHOC2 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 238 114 1 0 353
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 84 40 0 0 0 0 124
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 24 0 7 6 25 0 62
Service de Génétique Moléculaire,Hôpital Robert Debré 11 9 8 10 0 0 38
ClinGen RASopathy Variant Curation Expert Panel 23 1 0 0 0 0 24
Invitae 0 0 19 3 1 0 23
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 5 0 0 0 0 0 5
Integrated Genetics/Laboratory Corporation of America 1 0 1 0 2 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
Genetic Services Laboratory, University of Chicago 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
Donald Williams Parsons Laboratory,Baylor College of Medicine 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1

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