ClinVar Miner

Submissions for variant NM_005188.4(CBL):c.*560_*561insAT

gnomAD frequency: 0.24273  dbSNP: rs56722042
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192704 SCV000246877 likely benign not specified 2015-07-29 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001813425 SCV002060482 likely benign Noonan syndrome and Noonan-related syndrome 2017-01-20 criteria provided, single submitter clinical testing

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