ClinVar Miner

Submissions for variant NM_005188.4(CBL):c.954C>T (p.Ile318=)

dbSNP: rs1592399698
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001409563 SCV001611592 likely benign RASopathy 2018-07-15 criteria provided, single submitter clinical testing

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