ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.1669T>C (p.Leu557=)

gnomAD frequency: 0.00002  dbSNP: rs370600053
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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 RCV001444862 SCV001647876 likely benign Noonan syndrome 9 2019-06-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002405043 SCV002704411 likely benign Cardiovascular phenotype 2020-10-03 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 RCV001444862 SCV002763069 likely benign Noonan syndrome 9 criteria provided, single submitter clinical testing

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