Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001732388 | SCV001982396 | likely benign | not provided | 2021-03-17 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002073966 | SCV002451155 | likely benign | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | 2023-04-25 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003968525 | SCV004793939 | likely benign | SUCLA2-related disorder | 2019-02-18 | 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). |
Genetic Services Laboratory, |
RCV003151348 | SCV003840093 | likely benign | not specified | 2022-11-03 | no assertion criteria provided | clinical testing |