Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000223302 | SCV000271167 | likely benign | not specified | 2015-04-02 | criteria provided, single submitter | clinical testing | p.Glu1314Glu in exon 18 of USH2A: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. |