Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000039306 | SCV000062990 | likely benign | not specified | 2010-04-23 | criteria provided, single submitter | clinical testing | Pro3059Pro in exon 63 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 ne ar a splice junction. |
Invitae | RCV001046961 | SCV001210888 | likely benign | not provided | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001046961 | SCV001812058 | likely benign | not provided | 2021-07-08 | criteria provided, single submitter | clinical testing |