Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
MVZ Medizinische Genetik Mainz | RCV003991262 | SCV004808588 | likely pathogenic | Developmental and epileptic encephalopathy, 5 | 2022-11-15 | criteria provided, single submitter | clinical testing | ACMG Criteria: PVS1, PM2_SUP (ACMG Version 4) |