ClinVar Miner

Submissions for variant NM_005188.4(CBL):c.1512G>A (p.Pro504=)

gnomAD frequency: 0.00003  dbSNP: rs758285751
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000608315 SCV000712194 likely benign not specified 2016-05-26 criteria provided, single submitter clinical testing p.Pro504Pro in exon 10 of CBL: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 1/16512 South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitu te.org; dbSNP rs758285751).
Labcorp Genetics (formerly Invitae), Labcorp RCV002062131 SCV002337958 likely benign RASopathy 2022-09-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV003278942 SCV004009249 likely benign Cardiovascular phenotype 2023-05-13 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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