Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002202521 | SCV002359544 | likely benign | Alpha-methylacyl-CoA racemase deficiency | 2023-12-21 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003978550 | SCV004788376 | likely benign | AMACR-related disorder | 2024-02-21 | 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). |