ClinVar Miner

Submissions for variant NM_005188.4(CBL):c.1212_1223dup (p.Cys404_Ser407dup)

dbSNP: rs2135303865
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001813646 SCV002060743 uncertain significance Noonan syndrome and Noonan-related syndrome 2017-04-24 criteria provided, single submitter clinical testing

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