Variants studied for Noonan syndrome 3

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	not provided	total
26	13	4	1	1	1	46

Gene and significance breakdown #

Total genes and gene combinations: 7

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
KRAS	13	6	2	1	1	1	24
PTPN11	11	3	0	0	0	0	14
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

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	13	7	0	0	0	0	20
OMIM	6	0	0	0	0	0	6
Baylor Genetics	2	1	2	0	0	0	5
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
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 Immunology and Genetics Kaiserslautern	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
Department of Pediatrics, Taizhou Central Hospital, Taizhou University Hospital	1	0	0	0	0	0	1

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