Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000760773 | SCV000890668 | likely pathogenic | not provided | 2018-10-11 | criteria provided, single submitter | clinical testing | The R643X variant in the TP63 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 through protein truncation. The R643X variant is not observed in large population cohorts (Lek et al., 2016). We interpret R643X as a likely pathogenic variant. |
OMIM | RCV003159544 | SCV003853268 | pathogenic | Limb-mammary syndrome | 2023-04-04 | no assertion criteria provided | literature only |