Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000864620 | SCV001005443 | likely benign | Familial aplasia of the vermis | 2024-01-13 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001805911 | SCV002050494 | likely benign | not provided | 2021-01-13 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001805911 | SCV004161976 | likely benign | not provided | 2023-07-01 | criteria provided, single submitter | clinical testing | INPP5E: BP4, BP7 |
Genetic Services Laboratory, |
RCV003151162 | SCV003839614 | likely benign | not specified | 2022-08-15 | no assertion criteria provided | clinical testing |