ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.2786-6T>A

gnomAD frequency: 0.00014  dbSNP: rs552609367
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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 RCV000878065 SCV001020912 likely benign Noonan syndrome 9 2024-01-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003908355 SCV004718611 likely benign SOS2-related disorder 2019-03-26 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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