Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001034867 | SCV001198167 | likely benign | RASopathy | 2023-11-18 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV001819738 | SCV002070067 | uncertain significance | not specified | 2020-01-09 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004030937 | SCV003752844 | uncertain significance | Cardiovascular phenotype | 2021-03-26 | criteria provided, single submitter | clinical testing | The c.2126G>A (p.R709Q) alteration is located in exon 13 (coding exon 13) of the CBL gene. This alteration results from a G to A substitution at nucleotide position 2126, causing the arginine (R) at amino acid position 709 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |