ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.2605G>A (p.Val869Ile)

gnomAD frequency: 0.00006  dbSNP: rs373143128
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000701667 SCV000830479 benign Noonan syndrome 9 2023-12-12 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002282338 SCV002572201 likely benign not specified 2022-08-20 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000701667 SCV002763034 benign Noonan syndrome 9 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003928173 SCV004743271 benign SOS2-related disorder 2019-05-16 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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