Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000631055 | SCV000752044 | likely benign | Glycogen storage disease, type II | 2024-01-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002431856 | SCV002728220 | uncertain significance | Cardiovascular phenotype | 2021-07-12 | criteria provided, single submitter | clinical testing | The p.S736N variant (also known as c.2207G>A), located in coding exon 15 of the GAA gene, results from a G to A substitution at nucleotide position 2207. The serine at codon 736 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Natera, |
RCV000631055 | SCV001455432 | uncertain significance | Glycogen storage disease, type II | 2019-10-28 | no assertion criteria provided | clinical testing |