Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000155041 | SCV000204725 | likely benign | not specified | 2016-09-22 | criteria provided, single submitter | clinical testing | c.945+12G>A in intron 10 of CDH23: This variant is not expected to have clinical significance because it is not located within the conserved region of the splic e consensus sequence and has been identified in 8/8920 African chromosomes by th e Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs36 8487424). |
Invitae | RCV001492336 | SCV001696945 | likely benign | not provided | 2024-01-25 | criteria provided, single submitter | clinical testing |