Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000731669 | SCV000859514 | uncertain significance | not provided | 2018-02-06 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002061001 | SCV002461419 | likely benign | Alpha-methylacyl-CoA racemase deficiency | 2023-12-11 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003892638 | SCV004716250 | likely benign | AMACR-related disorder | 2023-07-19 | 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). |