Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001061825 | SCV001226584 | pathogenic | not provided | 2024-01-04 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Val2635Leufs*10) 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 present in population databases (no rsID available, gnomAD 0.007%). 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: 856378). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV003473681 | SCV004212333 | likely pathogenic | Pituitary adenoma 5, multiple types | 2023-02-14 | criteria provided, single submitter | clinical testing |