Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV000993763 | SCV001142737 | pathogenic | X-linked Alport syndrome | no assertion criteria provided | clinical testing | The variant was not found in gnomAD: PM2. It is predicted to undergo NMD and present in the relevant transcript: PVS1. It is predicted to be pathogenic (CADD score of 39): PP3. |