Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000530768 | SCV000653764 | benign | Immunodeficiency 14 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV001821611 | SCV002066029 | benign | not specified | 2021-03-24 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003925687 | SCV004740689 | benign | PIK3CD-related condition | 2019-03-22 | 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). |