Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000150284 | SCV000197309 | uncertain significance | not specified | 2014-05-30 | criteria provided, single submitter | clinical testing | The 2289+6T>G variant in CDH23 has not been previously reported in individuals w ith hearing loss or in large population studies. This variant is located in the 5' splice region. Computational tools suggest a possible impact to splicing; how ever, this information is not predictive enough to determine pathogenicity. In s ummary, the clinical significance of the 2289+6T>G variant is uncertain. |