Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001972656 | SCV002247252 | pathogenic | not provided | 2023-11-17 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Leu1709*) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CDH23-related conditions. ClinVar contains an entry for this variant (Variation ID: 1457546). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV003475235 | SCV004210659 | likely pathogenic | Pituitary adenoma 5, multiple types | 2023-07-04 | criteria provided, single submitter | clinical testing |