Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000875712 | SCV001018177 | likely benign | Deficiency of isobutyryl-CoA dehydrogenase | 2021-10-22 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003948235 | SCV004763861 | likely benign | ACAD8-related condition | 2021-10-28 | 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). |