Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Inherited Metabolic Diseases, |
RCV000240280 | SCV002583595 | pathogenic | Dias-Logan syndrome | 2022-10-17 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000240280 | SCV000298226 | pathogenic | Dias-Logan syndrome | 2016-09-08 | no assertion criteria provided | literature only |