ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.3954A>G (p.Pro1318=)

gnomAD frequency: 0.00001  dbSNP: rs751408063
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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 RCV001432012 SCV001634776 likely benign Noonan syndrome 9 2024-01-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002358967 SCV002621941 likely benign Cardiovascular phenotype 2019-09-19 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 RCV001432012 SCV002762963 likely benign Noonan syndrome 9 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003388016 SCV004099713 likely benign not specified 2023-09-11 criteria provided, single submitter clinical testing

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