ClinVar Miner

Variants studied for Noonan syndrome 10

Coded as:
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
10 6 47 0 0 1 62

Gene and significance breakdown #

Total genes and gene combinations: 2
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance not provided total
LZTR1 9 6 43 1 57
LOC130067016, LZTR1 1 0 4 0 5

Submitter and significance breakdown #

Total submitters: 32
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance not provided total
Baylor Genetics 2 1 12 0 15
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 14 0 14
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 2 4 0 6
OMIM 3 0 0 0 3
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 2 0 3
Laboratorio de Biologia Molecular - Genetica, Hospital de Pediatria Garrahan 1 0 2 0 3
Neuberg Centre For Genomic Medicine, NCGM 1 0 2 0 3
MGZ Medical Genetics Center 2 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 1 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 0 2 0 2
3billion 2 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 1
Institute of Human Genetics, Cologne University 0 0 1 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 1
Illumina Laboratory Services, Illumina 0 0 1 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 0 0 1
Laboratory of Human Genetics, Universidade de São Paulo 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 1 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 1 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 1
New York Genome Center 0 0 1 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 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.