Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000146254 | SCV000193501 | likely benign | not specified | 2013-10-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001081499 | SCV000763900 | benign | L-2-hydroxyglutaric aciduria | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000712166 | SCV000842595 | benign | not provided | 2017-09-25 | criteria provided, single submitter | clinical testing | |
Al Jalila Children's Genomics Center, |
RCV001081499 | SCV001984575 | benign | L-2-hydroxyglutaric aciduria | 2020-01-02 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003905267 | SCV004724203 | benign | L2HGDH-related condition | 2019-11-06 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |