Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000866467 | SCV001007568 | likely benign | Lethal congenital glycogen storage disease of heart | 2023-12-14 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001524969 | SCV001734955 | likely benign | Cardiomyopathy | 2020-06-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002390772 | SCV002702016 | uncertain significance | Cardiovascular phenotype | 2021-08-10 | criteria provided, single submitter | clinical testing | The p.Q499R variant (also known as c.1496A>G), located in coding exon 14 of the PRKAG2 gene, results from an A to G substitution at nucleotide position 1496. The glutamine at codon 499 is replaced by arginine, 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. |
Mayo Clinic Laboratories, |
RCV003480884 | SCV004224121 | uncertain significance | not provided | 2022-07-05 | criteria provided, single submitter | clinical testing |