ClinVar Miner

Variants studied for Noonan syndrome 9

Coded as:
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Gene type:
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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 4 659 647 96 1355

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SOS2 8 4 645 632 95 1326
LOC130055588, SOS2 0 0 12 15 1 27
ATL1, CDKL1, DMAC2L, L2HGDH, MAP4K5, NIN, SAV1, SOS2 0 0 1 0 0 1
L2HGDH, SOS2 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 34
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 6 1 595 636 75 1313
Genome-Nilou Lab 3 2 61 64 55 185
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 4 9 13 26
Fulgent Genetics, Fulgent Genetics 0 0 9 5 0 14
Revvity Omics, Revvity 0 0 13 0 0 13
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 11 0 0 11
Department of Human Genetics, University Hospital Magdeburg 6 1 0 0 0 7
New York Genome Center 0 0 6 0 0 6
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 0 4 0 4
Illumina Laboratory Services, Illumina 0 0 4 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 3 0 0 4
Baylor Genetics 0 0 3 0 0 3
Clinical Genomics Laboratory, Stanford Medicine 0 0 3 0 0 3
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
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 2
OMIM 2 0 0 0 0 2
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 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
Genetics Laboratory, Instituto de Ciencias en Reproduccion Humana 1 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 1 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 1
Medical Genetics Clinic, University of Catania 0 0 1 0 0 1
Mendelics 0 0 0 1 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 1
Phosphorus, Inc. 0 0 1 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 1

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