Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001329378 | SCV001520810 | uncertain significance | L-2-hydroxyglutaric aciduria | 2019-07-17 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Invitae | RCV001329378 | SCV001728446 | benign | L-2-hydroxyglutaric aciduria | 2024-01-25 | criteria provided, single submitter | clinical testing |