Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genome Diagnostics Laboratory, |
RCV001813650 | SCV002060751 | uncertain significance | Noonan syndrome and Noonan-related syndrome | 2020-10-15 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV002542451 | SCV003467932 | likely benign | RASopathy | 2023-08-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004996017 | SCV005545754 | uncertain significance | Cardiovascular phenotype | 2024-11-28 | criteria provided, single submitter | clinical testing | The p.S642N variant (also known as c.1925G>A), located in coding exon 11 of the CBL gene, results from a G to A substitution at nucleotide position 1925. The serine at codon 642 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear. |