ClinVar Miner

Submissions for variant NM_005188.4(CBL):c.204G>T (p.Arg68=)

dbSNP: rs1193552867
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000603113 SCV000720013 likely benign not specified 2017-05-31 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001813521 SCV002060731 uncertain significance Noonan syndrome and Noonan-related syndrome 2020-01-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003105986 SCV003783001 likely benign RASopathy 2023-06-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV004024935 SCV005022934 likely benign Cardiovascular phenotype 2023-12-16 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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