ClinVar Miner

Submissions for variant NM_005188.4(CBL):c.818C>G (p.Thr273Arg)

dbSNP: rs1949876598
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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 RCV001813641 SCV002060735 uncertain significance Noonan syndrome and Noonan-related syndrome 2016-12-12 criteria provided, single submitter clinical testing

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