Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000733166 | SCV000861197 | uncertain significance | not provided | 2018-05-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001487564 | SCV001692056 | likely benign | Alpha-methylacyl-CoA racemase deficiency | 2023-11-27 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003908050 | SCV004719270 | likely benign | AMACR-related disorder | 2021-10-18 | 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). |