ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.2646C>T (p.Tyr882=)

gnomAD frequency: 0.00001  dbSNP: rs761205651
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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 RCV001436776 SCV001639620 likely benign Noonan syndrome 9 2018-11-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003970398 SCV004777374 likely benign SOS2-related disorder 2020-02-17 criteria provided, single submitter 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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