Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001497997 | SCV001702738 | likely benign | Immunodeficiency 14 | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV001816632 | SCV002065130 | likely benign | not specified | 2021-05-26 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003945655 | SCV004767539 | likely benign | PIK3CD-related condition | 2019-11-26 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |