Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000896889 | SCV001041002 | likely benign | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 2023-12-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001585860 | SCV001812565 | likely benign | not provided | 2023-02-28 | criteria provided, single submitter | clinical testing | See Variant Classification Assertion Criteria. |
Genome- |
RCV000896889 | SCV002555286 | likely benign | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000896889 | SCV003819335 | uncertain significance | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 2021-04-06 | criteria provided, single submitter | clinical testing |