Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV001253344 | SCV001429005 | uncertain significance | Developmental and epileptic encephalopathy, 5 | 2018-10-09 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003311969 | SCV004010870 | uncertain significance | not provided | 2023-04-01 | criteria provided, single submitter | clinical testing | SPTAN1: PM2, PP2, PP3 |