Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000862544 | SCV001003062 | benign | Familial aplasia of the vermis; Meckel-Gruber syndrome | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003413676 | SCV004139380 | likely benign | not provided | 2022-12-01 | criteria provided, single submitter | clinical testing | RPGRIP1L: BP4, BP7 |
Natera, |
RCV001271278 | SCV001452351 | benign | Familial aplasia of the vermis | 2020-09-16 | no assertion criteria provided | clinical testing |