Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Revvity Omics, |
RCV000007029 | SCV003819295 | pathogenic | Congenital myasthenic syndrome 5 | 2022-02-09 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000007029 | SCV004214457 | pathogenic | Congenital myasthenic syndrome 5 | 2023-06-24 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000007029 | SCV000027225 | pathogenic | Congenital myasthenic syndrome 5 | 1998-08-04 | no assertion criteria provided | literature only |