ClinVar Miner

Variants studied for Noonan syndrome 10

Included ClinVar conditions (4):
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
12 20 67 1 0 2 98

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign not provided total
LZTR1 11 20 63 1 2 93
LOC130067016, LZTR1 1 0 4 0 0 5

Submitter and significance breakdown #

Total submitters: 39
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Submitter pathogenic likely pathogenic uncertain significance likely benign not provided total
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 1 0 19 0 0 20
Baylor Genetics 2 1 12 0 0 15
Fulgent Genetics, Fulgent Genetics 2 4 3 1 0 10
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 4 4 0 0 8
Clinical Genomics Laboratory, Washington University in St. Louis 1 1 5 0 0 7
Juno Genomics, Hangzhou Juno Genomics, Inc 1 2 3 0 0 6
Neuberg Centre For Genomic Medicine, NCGM 1 1 3 0 0 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 3 0 0 0 5
Laboratorio de Biologia Molecular - Genetica, Hospital de Pediatria Garrahan 1 0 3 0 0 4
OMIM 3 0 0 0 0 3
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 2 0 0 3
MGZ Medical Genetics Center 2 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 1 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 0 2 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 0 2 0 0 2
New York Genome Center 0 0 2 0 0 2
3billion 2 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 1
Institute of Human Genetics, Cologne University 0 0 1 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 1
Illumina Laboratory Services, Illumina 0 0 1 0 0 1
Laboratory of Human Genetics, Universidade de São Paulo 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 1 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 1 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 1 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 1 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 1
Laboratorio de Biologia Molecular/Medicina Genomica - IFF/Fiocruz, Instituto Fernandes Figueira, Fundacao Oswaldo Cruz 0 1 0 0 0 1
Pediatric Department, Beijing Jishuitan Hospital, Capital Medical University 0 1 0 0 0 1

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