Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156415 | SCV000206133 | likely benign | not specified | 2014-02-20 | criteria provided, single submitter | clinical testing | 5712+9T>C in intron 43 of CDH23: This variant is not expected to have clinical s ignificance because it is not located within the splice consensus sequence and i s not predicted to affect slicing. |
Invitae | RCV003764971 | SCV004648415 | likely benign | not provided | 2023-12-19 | criteria provided, single submitter | clinical testing |