Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001453329 | SCV001657016 | likely benign | Deficiency of 2-methylbutyryl-CoA dehydrogenase | 2023-01-15 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003983905 | SCV004797253 | likely benign | ACADSB-related condition | 2022-07-08 | 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). |