Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002098655 | SCV002394530 | likely benign | Alpha-methylacyl-CoA racemase deficiency | 2023-11-13 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003913662 | SCV004743110 | likely benign | AMACR-related disorder | 2019-10-31 | 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). |