Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000039101 | SCV000062783 | likely benign | not specified | 2014-08-11 | criteria provided, single submitter | clinical testing | Gly476Gly in exon 14A of CDH23: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. |
Invitae | RCV001307015 | SCV001496408 | likely benign | not provided | 2023-10-13 | criteria provided, single submitter | clinical testing |