Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000974726 | SCV001122575 | benign | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 2023-12-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001585893 | SCV001813216 | likely benign | not provided | 2021-04-02 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000974726 | SCV002554592 | likely benign | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 2022-03-15 | criteria provided, single submitter | clinical testing |