ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.21C>T (p.Pro7=)

dbSNP: rs727504845
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000156191 SCV000205907 likely benign not specified 2013-11-12 criteria provided, single submitter clinical testing Pro7Pro in exon 1 of SOS1: This variant is not expected to have clinical signifi cance because it does not alter an amino acid residue and is not located within the splice consensus sequence.
Invitae RCV002056117 SCV002423877 likely benign RASopathy 2023-05-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002467613 SCV002763629 likely benign Noonan syndrome 4 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002467612 SCV002763630 likely benign Fibromatosis, gingival, 1 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003416012 SCV004145983 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing SOS1: BP4, BP7

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