Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV001820234 | SCV002064560 | uncertain significance | not specified | 2019-06-26 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
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. |