Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Agnes Ginges Centre for Molecular Cardiology, |
RCV001254743 | SCV001430830 | likely pathogenic | Long QT syndrome | 2019-09-25 | no assertion criteria provided | research | This variant has been identified in Long QT proband as part of our research program and was found to segregate to an affected sibling. For further information please feel free to contact us. |