ClinVar Miner

Submissions for variant NM_005188.4(CBL):c.1178T>C (p.Ile393Thr)

gnomAD frequency: 0.00001  dbSNP: rs775272530
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001813645 SCV002060742 uncertain significance Noonan syndrome and Noonan-related syndrome 2018-10-04 criteria provided, single submitter clinical testing
GeneDx RCV003229898 SCV003927486 uncertain significance not provided 2023-05-22 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 22315494, 20619386)

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