Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000904888 | SCV001049441 | likely benign | Deficiency of 2-methylbutyryl-CoA dehydrogenase | 2023-05-08 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003912930 | SCV004730107 | likely benign | ACADSB-related condition | 2021-09-24 | 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). |