Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV003421972 | SCV004143804 | likely pathogenic | not provided | 2023-10-01 | criteria provided, single submitter | clinical testing | COQ8B: PVS1:Strong, PM2, PM3 |
OMIM | RCV000077758 | SCV000109564 | pathogenic | Nephrotic syndrome, type 9 | 2013-12-02 | no assertion criteria provided | literature only | |
Gene |
RCV000077758 | SCV000494118 | not provided | Nephrotic syndrome, type 9 | no assertion provided | literature only |