Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000485221 | SCV000572413 | uncertain significance | not provided | 2019-04-11 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 27879313, 27125181) |