ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.969+20T>G

gnomAD frequency: 0.00041  dbSNP: rs559272877
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000610927 SCV000715632 likely benign not specified 2017-02-02 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002062910 SCV002412676 likely benign Noonan syndrome 9 2024-01-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002062910 SCV002763104 likely benign Noonan syndrome 9 criteria provided, single submitter clinical testing

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