ClinVar Miner

Variants studied for Noonan syndrome 9

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
8 4 559 529 91 1139

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SOS2 8 4 549 519 90 1118
LOC130055588, SOS2 0 0 9 10 1 20
L2HGDH, SOS2 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 6 1 505 520 70 1102
Genome-Nilou Lab 3 2 61 64 55 185
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 3 8 13 24
Revvity Omics, Revvity 0 0 13 0 0 13
Fulgent Genetics, Fulgent Genetics 0 0 8 4 0 12
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 8 0 0 8
Department of Human Genetics, University Hospital Magdeburg 6 1 0 0 0 7
New York Genome Center 0 0 5 0 0 5
Illumina Laboratory Services, Illumina 0 0 4 0 0 4
Baylor Genetics 0 0 3 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 3 0 0 3
OMIM 2 0 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 2 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 1 0 0 2
Clinical Genomics Program, Stanford Medicine 0 0 2 0 0 2
MGZ Medical Genetics Center 0 0 1 0 0 1
Mendelics 0 0 0 1 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Phosphorus, Inc. 0 0 1 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 1 0 0 1
Genetics Laboratory, Instituto de Ciencias en Reproduccion Humana 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 1

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