Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000873144 | SCV001015082 | likely benign | Hyperprolinemia type 2 | 2023-07-13 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003965757 | SCV004784917 | benign | ALDH4A1-related condition | 2021-12-28 | 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). |