Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000498274 | SCV000590277 | uncertain significance | not provided | 2021-07-26 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; 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 |
Invitae | RCV002060088 | SCV002461636 | likely benign | Long QT syndrome | 2024-01-29 | criteria provided, single submitter | clinical testing |