Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000614617 | SCV000731949 | uncertain significance | not specified | 2017-09-22 | criteria provided, single submitter | clinical testing | The c.-208G>T variant in GJB2 has not been previously reported in individuals wi th hearing loss. Data from large population studies is not sufficient to determ ine the frequency of this variant. This variant is located in the 5' UTR, and th e impact of this variant cannot be determined. In summary, the clinical signfic ance of the -208G>T variant is uncertain. |