Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV000678138 | SCV003804662 | likely pathogenic | Developmental and epileptic encephalopathy, 7 | 2022-12-23 | criteria provided, single submitter | clinical testing | _x000D_ Criteria applied: PM5_STR, PM1, PS4_SUP, PM2_SUP, PP3 |
Gene |
RCV000678138 | SCV000484576 | not provided | Developmental and epileptic encephalopathy, 7 | no assertion provided | literature only | Uncertain severity |