Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000933425 | SCV001079124 | likely benign | Combined malonic and methylmalonic acidemia | 2023-12-22 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003942917 | SCV004756891 | likely benign | ACSF3-related condition | 2019-03-27 | 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, |
RCV000933425 | SCV001457770 | uncertain significance | Combined malonic and methylmalonic acidemia | 2020-01-24 | no assertion criteria provided | clinical testing |