Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV000506344 | SCV000604663 | benign | Immunodeficiency 14 | 2020-04-24 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000506344 | SCV000653769 | benign | Immunodeficiency 14 | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001530982 | SCV001745903 | likely benign | not provided | 2023-01-01 | criteria provided, single submitter | clinical testing | PIK3CD: BP4, BP7, BS2 |
Genetic Services Laboratory, |
RCV001821422 | SCV002068895 | benign | not specified | 2021-05-05 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003925505 | SCV004745816 | benign | PIK3CD-related condition | 2019-07-31 | 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). |