Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001443991 | SCV001646983 | likely benign | Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency | 2024-01-21 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003938786 | SCV004766430 | likely benign | MCEE-related condition | 2019-11-26 | 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). |