Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000518200 | SCV000614113 | uncertain significance | not specified | 2016-09-30 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000531660 | SCV000636252 | likely benign | Charcot-Marie-Tooth disease, type I | 2023-12-13 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001537849 | SCV000725353 | uncertain significance | not provided | 2021-06-18 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency 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.; This variant is associated with the following publications: (PMID: 27535533) |