Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156277 | SCV000205994 | likely benign | not specified | 2013-12-19 | criteria provided, single submitter | clinical testing | Val2088Val in exon 48 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 | RCV001397687 | SCV001599446 | likely benign | not provided | 2024-01-25 | criteria provided, single submitter | clinical testing |