ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.927C>T (p.Phe309=)

gnomAD frequency: 0.00003  dbSNP: rs1308740864
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002100751 SCV002389728 likely benign Noonan syndrome 9 2023-10-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV004045814 SCV005025487 likely benign Cardiovascular phenotype 2023-12-29 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.

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