Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003058255 | SCV003441524 | pathogenic | not provided | 2022-08-19 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant is also known as c.9504G>A (p.W3168X). This premature translational stop signal has been observed in individual(s) with CDH23-related conditions (PMID: 20613545). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp3163*) 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 | RCV003475494 | SCV004212335 | pathogenic | Pituitary adenoma 5, multiple types | 2023-02-10 | criteria provided, single submitter | clinical testing |