ClinVar Miner

Variants studied for Noonan syndrome 3

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 not provided total
22 11 3 1 2 1 40

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 8 3 1 1 2 1 16
PTPN11 12 4 0 0 0 0 16
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: 15
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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 14 8 0 0 0 0 22
OMIM 6 0 0 0 0 0 6
Baylor Genetics 2 0 2 0 0 0 4
Illumina Clinical Services Laboratory,Illumina 0 0 1 0 1 0 2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 1 0 0 0 0 2
Center for Human Genetics, Inc,Center for Human Genetics, Inc 0 0 0 1 0 0 1
Mendelics 0 0 0 0 1 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
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 1
GenomeConnect - CFC International 0 0 0 0 0 1 1
Beijing Key Laboratry for Genetics of Birth Defects,Beijing Children's Hospital 1 0 0 0 0 0 1

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