Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001876291 | SCV002292534 | likely benign | not provided | 2023-07-21 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003928793 | SCV004740802 | likely benign | MMUT-related condition | 2019-05-10 | 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). |
Natera, |
RCV001835176 | SCV002077371 | uncertain significance | Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency | 2020-03-10 | no assertion criteria provided | clinical testing |