ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.1911A>T (p.Glu637Asp)

gnomAD frequency: 0.00001  dbSNP: rs751563078
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002240110 SCV002511763 uncertain significance not specified 2022-04-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003754932 SCV004534790 likely benign Noonan syndrome 9 2023-01-19 criteria provided, single submitter clinical testing

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