Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000418075 | SCV000535009 | likely pathogenic | not provided | 2017-01-10 | criteria provided, single submitter | clinical testing | The c.7054+1G>A variant in the CDH23 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This splice site variant destroys the canonical splice donor site in intron 50, which is predicted to cause abnormal gene splicing. The c.7054+1G>A variant was not observed in approximately 6000 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.7054+1G>A as a likely pathogenic variant. |
Baylor Genetics | RCV003476017 | SCV004212353 | likely pathogenic | Pituitary adenoma 5, multiple types | 2022-10-01 | criteria provided, single submitter | clinical testing |