Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003062272 | SCV003441650 | pathogenic | not provided | 2022-08-31 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individuals with Usher syndrome (PMID: 27957503, 28944237). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln1288*) 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 | RCV003475492 | SCV004210657 | pathogenic | Pituitary adenoma 5, multiple types | 2023-07-07 | criteria provided, single submitter | clinical testing |