ClinVar Miner

Variants in gene SOS2

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Minimum submission review status: Collection method:
Minimum conflict level:
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
8 8 709 654 190 1 1452

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Noonan syndrome 9 8 4 548 519 90 0 1118
Cardiovascular phenotype 0 0 147 136 16 0 299
not provided 4 0 66 87 121 0 275
not specified 0 0 50 39 53 0 140
Inborn genetic diseases 0 1 21 4 0 0 26
Noonan syndrome and Noonan-related syndrome 0 0 3 2 20 0 25
Noonan syndrome 2 4 4 7 0 1 17
SOS2-related condition 0 1 13 0 0 0 14
Noonan syndrome 1 1 0 1 0 0 0 2
RASopathy 1 1 0 0 0 0 2
See cases 0 0 2 0 0 0 2
Developmental disorder 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 47
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 6 1 496 514 69 0 1086
Ambry Genetics 0 1 167 140 16 0 324
GeneDx 4 0 54 80 121 0 259
Genome-Nilou Lab 3 2 61 63 55 0 184
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 47 29 57 0 135
CeGaT Center for Human Genetics Tuebingen 0 0 8 11 13 0 32
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 0 3 2 20 0 25
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 3 8 13 0 24
Preventiongenetics, part of Exact Sciences 0 1 13 0 0 0 14
Service de Génétique Moléculaire, Hôpital Robert Debré 2 1 4 7 0 0 14
Revvity Omics, Revvity Omics 0 0 12 0 0 0 12
Fulgent Genetics, Fulgent Genetics 0 0 8 4 0 0 12
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 8 0 0 0 8
Clinical Genetics, Academic Medical Center 0 0 0 0 7 0 7
Department of Human Genetics, University Hospital Magdeburg 6 1 0 0 0 0 7
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 0 2 2 1 0 6
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 1 5 0 6
New York Genome Center 0 0 6 0 0 0 6
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 4 0 4
Illumina Laboratory Services, Illumina 0 0 4 0 0 0 4
Baylor Genetics 0 0 3 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 3 0 0 0 3
Yale Center for Mendelian Genomics, Yale University 0 3 0 0 0 0 3
OMIM 2 0 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 2 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 2 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 1 0 0 0 2
Institute of Human Genetics, University Hospital Muenster 0 0 2 0 0 0 2
Molecular Genetics, Centre for Human Genetics 1 0 1 0 0 0 2
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Mendelics 0 0 0 1 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Blueprint Genetics 0 0 1 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Phosphorus, Inc. 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 0 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 1 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 0 0 1 0 0 1
Genetics Laboratory, Instituto de Ciencias en Reproduccion Humana 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1

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