ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.1024C>T (p.Leu342=)

dbSNP: rs1033098930
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002186474 SCV002482520 likely benign Noonan syndrome 9 2021-01-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002382462 SCV002691634 likely benign Cardiovascular phenotype 2022-08-16 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 RCV002186474 SCV002763100 likely benign Noonan syndrome 9 criteria provided, single submitter clinical testing

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