ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.837C>T (p.Ser279=)

gnomAD frequency: 0.00004  dbSNP: rs542617984
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000652824 SCV000774696 likely benign Noonan syndrome 9 2024-01-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002440370 SCV002677882 likely benign Cardiovascular phenotype 2022-03-17 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 RCV000652824 SCV002763108 likely benign Noonan syndrome 9 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003389824 SCV004134089 likely benign not provided 2022-09-01 criteria provided, single submitter clinical testing SOS2: BP4, BP7

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