ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.2161+10A>G

gnomAD frequency: 0.00001  dbSNP: rs201629454
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Phosphorus, Inc. RCV000578097 SCV000679920 uncertain significance Noonan syndrome 9 2017-08-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000578097 SCV002394381 likely benign Noonan syndrome 9 2024-08-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003900291 SCV004709388 likely benign SOS2-related disorder 2020-10-02 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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