ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.958C>T (p.Leu320=)

gnomAD frequency: 0.00001  dbSNP: rs777858898
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Total submissions: 3
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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 RCV001420773 SCV001623124 likely benign not specified 2021-05-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002554097 SCV003481339 likely benign Noonan syndrome 9 2023-10-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV004681170 SCV005170315 likely benign Cardiovascular phenotype 2024-03-30 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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