Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000492835 | SCV000583351 | pathogenic | not provided | 2023-02-02 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge |
Ce |
RCV000492835 | SCV001245937 | likely pathogenic | not provided | 2020-03-01 | criteria provided, single submitter | clinical testing |