Variants studied for Noonan syndrome 2

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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
20	16	10	1	0	44

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	total
LZTR1	19	14	10	1	41
LOC130067016, LZTR1	1	2	0	0	3

Submitter and significance breakdown #

Total submitters: 21

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	total
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	5	4	0	0	9
Genomic Medicine Theme, NIHR Oxford Biomedical Research Centre, University of Oxford	3	0	3	0	6
OMIM	5	0	0	0	5
Mendelics	1	2	0	0	3
Neuberg Centre For Genomic Medicine, NCGM	2	0	1	0	3
Baylor Genetics	0	0	2	0	2
Center of Genomic medicine, Geneva, University Hospital of Geneva	1	1	0	0	2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin	1	1	0	0	2
Undiagnosed Diseases Network, NIH	1	0	1	0	2
Institute of Human Genetics, University of Leipzig Medical Center	1	1	0	0	2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	1	1	0	0	2
New York Genome Center	1	1	0	0	2
Department of Pediatrics, The University of Tokyo	1	1	0	0	2
Clinical Genomics Laboratory, Washington University in St. Louis	0	0	1	0	1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology	0	1	0	0	1
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust	0	0	1	0	1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues	0	1	0	0	1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego	0	1	0	0	1
Genomic Medicine Lab, University of California San Francisco	0	1	0	0	1
3billion	0	0	0	1	1
Human Genetics Bochum, Ruhr University Bochum	0	0	1	0	1

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