Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000214228 | SCV000270031 | likely benign | not specified | 2014-12-24 | criteria provided, single submitter | clinical testing | p.Thr689Thr in exon 20 of CDH23: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. |
Invitae | RCV000944551 | SCV001090522 | likely benign | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing |