ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.1198G>A (p.Asp400Asn)

gnomAD frequency: 0.00006  dbSNP: rs200368064
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001422855 SCV001625414 likely benign Noonan syndrome 9 2023-08-24 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001813538 SCV002060660 likely benign Noonan syndrome and Noonan-related syndrome 2021-04-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001422855 SCV002763093 likely benign Noonan syndrome 9 criteria provided, single submitter clinical testing

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