Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV001287112 | SCV001473760 | benign | Hemolytic anemia due to glucophosphate isomerase deficiency | 2023-11-09 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002069525 | SCV002427620 | benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003983871 | SCV004796716 | benign | GPI-related condition | 2019-05-08 | 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). |