Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001050906 | SCV001215035 | pathogenic | not provided | 2021-02-13 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with CDH23-related conditions. ClinVar contains an entry for this variant (Variation ID: 847374). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln462Hisfs*18) in the CDH23 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CDH23 are known to be pathogenic (PMID: 11138009, 21940737). |
Baylor Genetics | RCV003473643 | SCV004212315 | likely pathogenic | Pituitary adenoma 5, multiple types | 2023-03-27 | criteria provided, single submitter | clinical testing |