Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000213156 | SCV000270028 | likely benign | not specified | 2015-12-24 | criteria provided, single submitter | clinical testing | p.Thr560Thr variant in exon 16 of CDH23: This variant is not expected to have cl inical significance because it does not alter an amino acid residue and is not l ocated within the splice consensus sequence. It has been identified in 3/33304 E uropean chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broad institute.org; dbSNP rs780822052). |
Invitae | RCV001484796 | SCV001689219 | likely benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing |