Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000036417 | SCV000060072 | likely benign | not specified | 2012-01-20 | criteria provided, single submitter | clinical testing | The -66C>T variant in the 5?UTR of SLC26A4: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not l ocated within a splice consensus sequence, and another base change at this site, -66C>G, has been observed as a common benign variant (rs17154282). |