Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genome- |
RCV001789603 | SCV002032012 | benign | Proteasome-associated autoinflammatory syndrome 3 | 2021-10-25 | criteria provided, single submitter | clinical testing | |
Unidad de Genómica Garrahan, |
RCV003401717 | SCV004122997 | benign | not specified | 2023-11-14 | criteria provided, single submitter | clinical testing | This variant is classified as Benign based on local population frequency. This variant was detected in 44% of patients studied by a panel of primary immunodeficiencies. Number of patients: 42. Only high quality variants are reported. |
Prevention |
RCV003976183 | SCV004793274 | benign | PSMB9-related disorder | 2019-10-21 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |