ClinVar Miner

Variants in gene SOS2

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
6 7 151 122 100 1 364

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Noonan syndrome 9 6 2 112 60 23 0 200
not provided 2 0 21 52 67 0 141
not specified 0 0 23 24 38 0 83
Noonan syndrome 2 4 5 7 0 1 18
Inborn genetic diseases 0 1 1 0 0 0 2
Rasopathy 0 2 0 0 0 0 2

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 2 1 105 79 24 0 211
GeneDx 1 0 19 31 72 0 123
Integrated Genetics/Laboratory Corporation of America 0 2 20 13 44 0 79
Service de Génétique Moléculaire,Hôpital Robert Debré 2 1 5 7 0 0 15
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 3 6 0 9
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
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 0 4 0 4
Yale Center for Mendelian Genomics,Yale University 0 3 0 0 0 0 3
OMIM 2 0 0 0 0 0 2
Baylor Genetics 0 0 2 0 0 0 2
Ambry Genetics 0 1 1 0 0 0 2
Fulgent Genetics,Fulgent Genetics 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
Mendelics 0 0 0 1 0 0 1
Blueprint Genetics 0 0 1 0 0 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 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
Genetics Laboratory,Instituto de Ciencias en Reproduccion Humana 1 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1

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