Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001240592 | SCV001413555 | pathogenic | not provided | 2019-11-15 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in CDH23 are known to be pathogenic (PMID: 11138009, 21940737). This variant has not been reported in the literature in individuals with CDH23-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Thr188Asnfs*78) in the CDH23 gene. It is expected to result in an absent or disrupted protein product. |
Baylor Genetics | RCV003473817 | SCV004210620 | likely pathogenic | Pituitary adenoma 5, multiple types | 2023-09-14 | criteria provided, single submitter | clinical testing |