Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000255729 | SCV000322053 | pathogenic | not provided | 2015-04-08 | criteria provided, single submitter | clinical testing | The c.7861-2delA variant destroys the canonical splice acceptor site in intron 45. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. |