ClinVar Miner

Submissions for variant NM_005188.4(CBL):c.1794A>G (p.Val598=)

dbSNP: rs760865008
Minimum review status: Collection method:
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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 RCV001813649 SCV002060749 uncertain significance Noonan syndrome and Noonan-related syndrome 2020-07-01 criteria provided, single submitter clinical testing

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