ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.3747C>A (p.Phe1249Leu)

gnomAD frequency: 0.00001  dbSNP: rs775837423
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 RCV001063385 SCV001228227 likely benign RASopathy 2023-11-02 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003142008 SCV003822087 uncertain significance not provided 2022-08-29 criteria provided, single submitter clinical testing

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