ClinVar Miner

Submissions for variant NM_005188.4(CBL):c.2097G>A (p.Glu699=)

gnomAD frequency: 0.00001  dbSNP: rs1057519031
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000415477 SCV000328359 likely benign CBL-related disorder 2016-09-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001491383 SCV001695974 likely benign RASopathy 2023-10-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV004992197 SCV005545826 likely benign Cardiovascular phenotype 2024-11-25 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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