Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000487187 | SCV000565953 | pathogenic | not provided | 2015-03-12 | criteria provided, single submitter | clinical testing | The c.1777delT variant is predicted to cause loss of normal protein function eitherthrough protein truncation or nonsense-mediated mRNA decay. Although this deletion has not been previously reported to our knowledge, we interpret this variant as pathogenic. |