Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000579255 | SCV000681299 | pathogenic | not provided | 2018-01-04 | criteria provided, single submitter | clinical testing | The C64X pathogenic variant in the CLDN1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The C64X variant is not observed in large population cohorts (Lek et al., 2016). We interpret C64X as a pathogenic variant. |
Ce |
RCV000579255 | SCV001154126 | likely pathogenic | not provided | 2016-08-01 | criteria provided, single submitter | clinical testing |