ClinVar Miner

Submissions for variant NM_005188.4(CBL):c.516A>G (p.Gly172=)

gnomAD frequency: 0.00003  dbSNP: rs765968487
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002142309 SCV002411728 likely benign RASopathy 2024-01-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002337298 SCV002641118 likely benign Cardiovascular phenotype 2019-05-16 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003235676 SCV003933798 likely benign not specified 2023-05-22 criteria provided, single submitter clinical testing

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