ClinVar Miner

Submissions for variant NM_005188.4(CBL):c.2055A>G (p.Lys685=)

gnomAD frequency: 0.00001  dbSNP: rs1454595224
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000538064 SCV000659107 likely benign RASopathy 2024-07-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002497198 SCV002793414 uncertain significance Juvenile myelomonocytic leukemia; CBL-related disorder 2021-10-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004737833 SCV005353766 likely benign CBL-related disorder 2024-03-27 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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