ClinVar Miner

Submissions for variant NM_005188.4(CBL):c.561G>A (p.Ala187=)

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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 RCV002751129 SCV003026878 likely benign RASopathy 2023-03-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003427502 SCV004129474 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing CBL: BP4, BP7

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