Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Blueprint Genetics | RCV000788238 | SCV000927287 | uncertain significance | not provided | 2017-06-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001445232 | SCV001648257 | likely benign | Lethal congenital glycogen storage disease of heart | 2022-12-20 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000788238 | SCV001812242 | uncertain significance | not provided | 2019-05-15 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek et al., 2016); In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Located in a region that tolerates variation and lacks pathogenic variants |
Ce |
RCV000788238 | SCV004156982 | uncertain significance | not provided | 2022-06-01 | criteria provided, single submitter | clinical testing | PRKAG2: PM2, BP4 |