Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
DNA- |
RCV004577957 | SCV005061748 | pathogenic | Hereditary angioedema type 1 | 2024-06-01 | criteria provided, single submitter | research | The c.623_624insA variant in SERPING1 meets ACMG/ClinGen SVI guidance criteria to be classified as pathogenic: PVS1, PP4_Str, PM2_Sup |
Peking Union Medical College Hospital | RCV002221672 | SCV001977593 | pathogenic | Hereditary angioedema with C1Inh deficiency | 2021-09-25 | no assertion criteria provided | research |