Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000968816 | SCV001116291 | likely benign | Congenital myasthenic syndrome 8 | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003411917 | SCV004126865 | likely benign | not provided | 2023-05-01 | criteria provided, single submitter | clinical testing | AGRN: BP4, BS1 |