ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.2668-4T>C

gnomAD frequency: 0.00003  dbSNP: rs763298498
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001511124 SCV001718315 benign Noonan syndrome 9 2021-08-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003928413 SCV004745803 likely benign SOS2-related disorder 2021-01-13 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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