ClinVar Miner

Submissions for variant NM_005188.4(CBL):c.1927C>T (p.Leu643=)

gnomAD frequency: 0.00002  dbSNP: rs139939244
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000825715 SCV000967164 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Leu643Leu in Exon 11 of CBL: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence. It has been identified in 1/3738 African America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs139939244).
Labcorp Genetics (formerly Invitae), Labcorp RCV001505302 SCV001710194 likely benign RASopathy 2024-10-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002497197 SCV002799074 likely benign Juvenile myelomonocytic leukemia; CBL-related disorder 2021-07-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV004601207 SCV005098185 likely benign Cardiovascular phenotype 2024-04-27 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.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.