Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000927510 | SCV001073095 | likely benign | Lethal congenital glycogen storage disease of heart | 2023-06-16 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001179793 | SCV001344572 | likely benign | Cardiomyopathy | 2019-05-20 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002409195 | SCV002722350 | uncertain significance | Cardiovascular phenotype | 2020-09-08 | criteria provided, single submitter | clinical testing | The c.187-4G>A intronic variant results from a G to A substitution 4 nucleotides upstream from coding exon 3 in the PRKAG2 gene. This nucleotide position is poorly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
All of Us Research Program, |
RCV004003219 | SCV004815726 | likely benign | Hypertrophic cardiomyopathy | 2023-12-18 | criteria provided, single submitter | clinical testing |