ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.2397G>A (p.Pro799=)

dbSNP: rs770022419
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001733397 SCV001983618 likely benign not specified 2021-09-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002073985 SCV002444628 likely benign Noonan syndrome 9 2024-01-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002073985 SCV002763039 likely benign Noonan syndrome 9 criteria provided, single submitter clinical testing
Ambry Genetics RCV004040041 SCV005025047 likely benign Cardiovascular phenotype 2024-03-07 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.
PreventionGenetics, part of Exact Sciences RCV003976141 SCV004791445 likely benign SOS2-related disorder 2019-03-26 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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