ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.3987A>C (p.Glu1329Asp)

gnomAD frequency: 0.00001  dbSNP: rs146527239
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001969377 SCV002259487 likely benign Noonan syndrome 9 2024-04-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001969377 SCV005629296 uncertain significance Noonan syndrome 9 2024-03-19 criteria provided, single submitter clinical testing

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