Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002060838 | SCV002325042 | likely benign | Alpha-methylacyl-CoA racemase deficiency | 2023-11-03 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003892524 | SCV004717422 | likely benign | AMACR-related disorder | 2021-03-09 | 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). |
Mayo Clinic Laboratories, |
RCV000676070 | SCV000801805 | likely benign | not provided | 2018-02-20 | no assertion criteria provided | clinical testing |