Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genome Diagnostics Laboratory, |
RCV002261009 | SCV002542790 | pathogenic | Autoinflammatory syndrome | 2019-04-01 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000210288 | SCV004197040 | pathogenic | Hermansky-Pudlak syndrome 2 | 2023-02-26 | criteria provided, single submitter | clinical testing | |
Blood Cell Research, |
RCV000210288 | SCV000266374 | pathogenic | Hermansky-Pudlak syndrome 2 | 2016-01-01 | no assertion criteria provided | research |