ClinVar Miner

Submissions for variant NM_005188.4(CBL):c.1008-8C>T

gnomAD frequency: 0.00001  dbSNP: rs1172261425
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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 RCV002219004 SCV002365740 likely benign RASopathy 2023-08-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003426305 SCV004129476 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing CBL: BP4

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