ClinVar Miner

Submissions for variant NM_005188.4(CBL):c.1455C>G (p.Phe485Leu)

gnomAD frequency: 0.00001  dbSNP: rs369547447
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001892342 SCV002150657 likely benign RASopathy 2024-01-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002503470 SCV002812684 uncertain significance Juvenile myelomonocytic leukemia; CBL-related disorder 2021-08-19 criteria provided, single submitter clinical testing

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