Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002863225 | SCV003230001 | pathogenic | not provided | 2022-08-21 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Leu2315Serfs*58) 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). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with CDH23-related conditions. This variant is not present in population databases (gnomAD no frequency). |
Baylor Genetics | RCV003475443 | SCV004212301 | likely pathogenic | Pituitary adenoma 5, multiple types | 2023-05-05 | criteria provided, single submitter | clinical testing |