Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics | RCV000991481 | SCV001142909 | pathogenic | not provided | 2019-01-21 | criteria provided, single submitter | clinical testing | Not found in the total gnomAD dataset, and the data is high quality (0/282672 chr). Predicted to have a damaging effect on the protein. Damaging to protein function(s) relevant to disease mechanism. Strong co-segregation with disease in affected individuals from a single family. |
OMIM | RCV000005754 | SCV000025936 | pathogenic | Focal segmental glomerulosclerosis 1 | 2000-03-01 | no assertion criteria provided | literature only |