Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000150287 | SCV000197321 | benign | not specified | 2012-05-07 | criteria provided, single submitter | clinical testing | 3220+15C>T in Intron 27 of CDH23: This variant is not expected to have clinical significance because it is not located within the conserved splice consensus seq uence and has been identified in 1.1% (39/3540) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.was hington.edu/EVS; dbSNP rs79267977). |
Invitae | RCV001520586 | SCV001729719 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing |