Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000540446 | SCV000636792 | likely benign | Perlman syndrome | 2022-07-05 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003886409 | SCV004703578 | likely benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | DIS3L2: PM2:Supporting, BP4, BP7 |