Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001070362 | SCV001235586 | likely benign | Charcot-Marie-Tooth disease axonal type 2P | 2022-06-24 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001776116 | SCV002013169 | uncertain significance | not provided | 2020-01-13 | criteria provided, single submitter | clinical testing | Not observed at a significant frequency in large population cohorts (Lek et al., 2016); 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. |