ClinVar Miner

Submissions for variant NM_005188.4(CBL):c.869+10A>G

gnomAD frequency: 0.00006  dbSNP: rs768380727
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001820259 SCV002064614 likely benign not specified 2019-07-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002074323 SCV002338876 likely benign RASopathy 2023-11-03 criteria provided, single submitter clinical testing

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