ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.2775A>T (p.Pro925=)

dbSNP: rs397517160
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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 RCV000038538 SCV000062216 likely benign not specified 2009-09-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002054708 SCV002443721 likely benign RASopathy 2023-09-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002433505 SCV002746253 likely benign Cardiovascular phenotype 2021-09-10 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Genome-Nilou Lab RCV002467546 SCV002763266 likely benign Noonan syndrome 4 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002467545 SCV002763267 likely benign Fibromatosis, gingival, 1 criteria provided, single submitter clinical testing

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