ClinVar Miner

Submissions for variant NM_005188.4(CBL):c.819G>A (p.Thr273=)

gnomAD frequency: 0.00004  dbSNP: rs750907780
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001813555 SCV002060736 uncertain significance Noonan syndrome and Noonan-related syndrome 2019-01-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002064551 SCV002379998 likely benign RASopathy 2021-12-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002427141 SCV002680111 likely benign Cardiovascular phenotype 2020-07-19 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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