Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001305509 | SCV001494847 | likely benign | Noonan syndrome 9 | 2023-09-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002447309 | SCV002676308 | uncertain significance | Cardiovascular phenotype | 2021-06-23 | criteria provided, single submitter | clinical testing | The p.E422K variant (also known as c.1264G>A), located in coding exon 10 of the SOS2 gene, results from a G to A substitution at nucleotide position 1264. The glutamic acid at codon 422 is replaced by lysine, 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Genome- |
RCV001305509 | SCV002763089 | uncertain significance | Noonan syndrome 9 | criteria provided, single submitter | clinical testing |