Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000591995 | SCV000708479 | uncertain significance | not provided | 2017-05-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002065176 | SCV002371196 | likely benign | Alpha-methylacyl-CoA racemase deficiency | 2024-01-27 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003900353 | SCV004714540 | likely benign | AMACR-related disorder | 2021-03-29 | 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). |