Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001866428 | SCV002123197 | likely benign | RASopathy | 2023-10-26 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002482454 | SCV002789491 | uncertain significance | Juvenile myelomonocytic leukemia; CBL-related disorder | 2021-08-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003164062 | SCV003855259 | uncertain significance | Cardiovascular phenotype | 2022-12-23 | criteria provided, single submitter | clinical testing | The p.E696K variant (also known as c.2086G>A), located in coding exon 13 of the CBL gene, results from a G to A substitution at nucleotide position 2086. The glutamic acid at codon 696 is replaced by lysine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |