Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000501806 | SCV000595491 | likely benign | not specified | 2018-02-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000962502 | SCV001109588 | likely benign | L-2-hydroxyglutaric aciduria | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003960169 | SCV004770377 | likely benign | L2HGDH-related condition | 2019-12-02 | 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). |