Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000878220 | SCV001021085 | likely benign | Very long chain acyl-CoA dehydrogenase deficiency | 2023-12-12 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003895392 | SCV004709241 | likely benign | ACADVL-related condition | 2023-12-26 | 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). |