ClinVar Miner

Submissions for variant NM_005188.4(CBL):c.2049G>A (p.Val683=)

dbSNP: rs1950067375
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001813651 SCV002060753 uncertain significance Noonan syndrome and Noonan-related syndrome 2020-11-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002074232 SCV002331551 likely benign RASopathy 2023-09-21 criteria provided, single submitter clinical testing

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