Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000220395 | SCV000271674 | uncertain significance | not specified | 2015-08-13 | criteria provided, single submitter | clinical testing | The c.-12G>A variant in DMD has not been previously reported in individuals with cardiomyopathy or in large population studies. This variant is located in the 5 ' UTR and is part of the translation initiation (Kozak) sequence, but its effect on translation is unknown. In summary, the clinical significance of the c.-12G> A variant is uncertain. |