Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Cirak Lab, |
RCV000855503 | SCV000996633 | likely pathogenic | Fetal akinesia deformation sequence 1; Arthrogryposis multiplex congenita | 2019-06-28 | criteria provided, single submitter | research | |
Hudson |
RCV001775152 | SCV002012500 | likely pathogenic | Developmental and epileptic encephalopathy, 13 | 2021-07-27 | criteria provided, single submitter | research | ACMG codes: PS2; PM2; PM5; PP3 |