ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.726A>G (p.Val242=)

gnomAD frequency: 0.00001  dbSNP: rs1378914590
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001553315 SCV001774167 likely benign not provided 2019-04-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003771692 SCV004681909 likely benign RASopathy 2022-12-02 criteria provided, single submitter clinical testing

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