Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000485698 | SCV000566213 | pathogenic | not provided | 2015-04-09 | criteria provided, single submitter | clinical testing | This c.1086dupC duplication is predicted to cause loss of normal protein functioneither through protein truncation or nonsense-mediated mRNA decay. Although this mutation has not been previously reported to our knowledge, we interpret it as pathogenic. |