Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Geng Laboratory, |
RCV001093596 | SCV001197254 | uncertain significance | Proteasome-associated autoinflammatory syndrome 1 | 2020-02-15 | criteria provided, single submitter | clinical testing | In-silico analysis by Mutation Taster, Polyphen-2, REVEL, SIFT and Provean, both mutations were predicted as damaging. |
Genome Diagnostics Laboratory, |
RCV002261273 | SCV002542818 | uncertain significance | Autoinflammatory syndrome | 2021-06-07 | criteria provided, single submitter | clinical testing |