Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000879675 | SCV001022721 | likely benign | Combined malonic and methylmalonic acidemia | 2024-01-02 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003967963 | SCV004777726 | likely benign | ACSF3-related condition | 2020-10-02 | 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). |