Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000760737 | SCV000890630 | pathogenic | not provided | 2018-09-26 | criteria provided, single submitter | clinical testing | The S324X nonsense variant in the TBC1D24 gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The S324X variant is not observed in large population cohorts (Lek et al., 2016). |