Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics | RCV000712165 | SCV000842593 | benign | not provided | 2018-03-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002067004 | SCV002487820 | benign | L-2-hydroxyglutaric aciduria | 2024-01-02 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003907970 | SCV004727094 | likely benign | L2HGDH-related disorder | 2019-03-22 | 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). |