ClinVar Miner

Variants studied for Noonan syndrome 2

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 total
13 6 7 0 0 25

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
LZTR1 13 6 7 25

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance total
Genomic Medicine Theme, NIHR Oxford Biomedical Research Centre,University of Oxford 3 0 3 6
OMIM 5 0 0 5
Baylor Genetics 0 0 2 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 1 0 2
Undiagnosed Diseases Network,NIH 1 0 1 2
Institute of Human Genetics, University of Leipzig Medical Center 1 1 0 2
Broad Institute Rare Disease Group, Broad Institute 1 1 0 2
New York Genome Center 1 1 0 2
Department of Pediatrics,The University of Tokyo 1 1 0 2
Oxford Medical Genetics Laboratories,Oxford University Hospitals NHS Foundation Trust 0 0 1 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 1

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