ClinVar Miner

Submissions for variant NM_005188.4(CBL):c.869+19A>G

gnomAD frequency: 0.00232  dbSNP: rs181589369
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000049225 SCV000077239 benign RASopathy 2012-04-02 criteria provided, single submitter clinical testing The variant is found in NOONAN panel(s).
PreventionGenetics, part of Exact Sciences RCV000250922 SCV000310879 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000049225 SCV001727790 benign RASopathy 2024-01-29 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000250922 SCV002014964 benign not specified 2021-10-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002504948 SCV002808473 benign Juvenile myelomonocytic leukemia; CBL-related disorder 2021-08-11 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003315578 SCV004016968 benign Juvenile myelomonocytic leukemia 2023-07-07 criteria provided, single submitter clinical testing

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