Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001086776 | SCV000255215 | likely benign | Familial aplasia of the vermis; Meckel-Gruber syndrome | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000200007 | SCV001155456 | likely benign | not provided | 2023-02-01 | criteria provided, single submitter | clinical testing | TMEM67: BP4 |