ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.1521G>T (p.Glu507Asp)

gnomAD frequency: 0.00040  dbSNP: rs141604342
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000652830 SCV000774702 likely benign Noonan syndrome 9 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001613429 SCV001837185 benign not provided 2019-01-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000652830 SCV002763073 likely benign Noonan syndrome 9 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000652830 SCV002807762 likely benign Noonan syndrome 9 2021-11-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003945673 SCV004762386 likely benign SOS2-related condition 2019-10-23 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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