Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000536103 | SCV000653767 | benign | Immunodeficiency 14 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV003656120 | SCV001157007 | benign | not provided | 2023-10-26 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003952848 | SCV004778805 | benign | PIK3CD-related condition | 2019-09-23 | 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). |