ClinVar Miner

Submissions for variant NM_005188.4(CBL):c.2544C>T (p.Ala848=)

dbSNP: rs2135322154
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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 RCV001813653 SCV002060763 uncertain significance Noonan syndrome and Noonan-related syndrome 2017-03-09 criteria provided, single submitter clinical testing

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