Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001213784 | SCV001385434 | benign | Noonan syndrome 9 | 2023-12-11 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002451466 | SCV002613254 | uncertain significance | Cardiovascular phenotype | 2022-06-06 | criteria provided, single submitter | clinical testing | The p.A1174T variant (also known as c.3520G>A), located in coding exon 23 of the SOS2 gene, results from a G to A substitution at nucleotide position 3520. The alanine at codon 1174 is replaced by threonine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Genome- |
RCV001213784 | SCV002762991 | uncertain significance | Noonan syndrome 9 | criteria provided, single submitter | clinical testing |