Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001185301 | SCV001351482 | likely benign | Cardiomyopathy | 2019-03-30 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002253780 | SCV002525361 | uncertain significance | not provided | 2022-06-01 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis 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; Reported using an alternate transcript of the gene |