Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001512510 | SCV001719940 | benign | Severe combined immunodeficiency due to DNA-PKcs deficiency | 2021-12-03 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003424460 | SCV004157600 | likely benign | not provided | 2022-08-01 | criteria provided, single submitter | clinical testing | PRKDC: BP4, BP7 |