Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV000787148 | SCV000926078 | likely pathogenic | Renal cysts and diabetes syndrome | 2019-07-06 | criteria provided, single submitter | literature only | |
Athena Diagnostics Inc | RCV000993282 | SCV001146119 | likely pathogenic | not provided | 2019-01-10 | criteria provided, single submitter | clinical testing | Not found in the total gnomAD dataset, and the data is high quality (0/251088 chr). Found in at least one symptomatic patient. Predicted to have a damaging effect on the protein. Damaging to protein function(s) relevant to disease mechanism. |