ClinVar Miner

Submissions for variant NM_005188.4(CBL):c.2482C>T (p.Pro828Ser)

gnomAD frequency: 0.00005  dbSNP: rs371026706
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001820234 SCV002064560 uncertain significance not specified 2019-06-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002542038 SCV003244751 likely benign RASopathy 2023-04-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV004996021 SCV005545850 uncertain significance Cardiovascular phenotype 2024-12-04 criteria provided, single submitter clinical testing The p.P828S variant (also known as c.2482C>T), located in coding exon 16 of the CBL gene, results from a C to T substitution at nucleotide position 2482. The proline at codon 828 is replaced by serine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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