ClinVar Miner

Submissions for variant NM_005188.3(CBL):c.-126_-125insTGGCGGCGGCGGCGGCGG

dbSNP: rs758396206
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000343387 SCV000367738 uncertain significance Noonan-like syndrome 2016-06-14 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001813450 SCV002060724 uncertain significance Noonan syndrome and Noonan-related syndrome 2017-01-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004692991 SCV005191413 uncertain significance not provided criteria provided, single submitter not provided

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