ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.1532A>G (p.Lys511Arg)

gnomAD frequency: 0.00001  dbSNP: rs758393921
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000788580 SCV000927737 uncertain significance not provided 2018-06-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003655213 SCV004561977 likely benign RASopathy 2023-06-14 criteria provided, single submitter clinical testing

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