ClinVar Miner

Variants studied for Noonan syndrome 3

Included ClinVar conditions (6):
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
28 13 8 7 1 1 57

Gene and significance breakdown #

Total genes and gene combinations: 7
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
KRAS 14 6 6 7 1 1 34
PTPN11 12 3 0 0 0 0 15
HRAS, LRRC56 0 2 0 0 0 0 2
SHOC2 0 0 2 0 0 0 2
SOS1 1 1 0 0 0 0 2
CLTC 1 0 0 0 0 0 1
RAF1 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 26
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 14 7 0 0 0 0 21
Fulgent Genetics, Fulgent Genetics 1 0 3 6 0 0 10
OMIM 6 0 0 0 0 0 6
Baylor Genetics 3 1 2 0 0 0 6
3billion 3 0 1 0 0 0 4
Illumina Laboratory Services, Illumina 0 0 1 0 1 0 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 2 0 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 2 0 0 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 1 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 1 0 0 0 0 2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 1 0 0 0 0 2
DASA 2 0 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 0 0 1 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 1 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
Donald Williams Parsons Laboratory, Baylor College of Medicine 0 1 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 1
GenomeConnect - CFC International 0 0 0 0 0 1 1
Institute of Human Genetics, University Hospital Muenster 1 0 0 0 0 0 1
Prenatal Genetic Diagnosis Laboratory, The Chinese University of Hong Kong 1 0 0 0 0 0 1
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 1 0 0 0 0 0 1
Institute Of Reproduction And Development, Obstetrics and Gynecology Hospital, Fudan University 1 0 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.