Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000421709 | SCV000516804 | pathogenic | not provided | 2015-05-28 | criteria provided, single submitter | clinical testing | The c.7760+1 G>T splice site mutation in the CDH23 gene has been previouslyreported in association with Usher syndrome type I (Schultz et al., 2011). Specifically, the c.7760+1 G>T variant was identified in a patient who was compound heterozygous for the c.288+1 G>C splice site variant (Schultz et al., 2011). The c.7760+1 G>T variant destroys the canonical splice donor site in intron 54, and is expected to cause abnormal gene splicing. Therefore, we interpret this variant to be pathogenic. |
Clinical Genetics, |
RCV000421709 | SCV001918629 | pathogenic | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000421709 | SCV001965654 | pathogenic | not provided | no assertion criteria provided | clinical testing | ||
Natera, |
RCV001828406 | SCV002087592 | pathogenic | Usher syndrome type 1 | 2021-09-27 | no assertion criteria provided | clinical testing |