Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001518744 | SCV001727500 | benign | D-2-hydroxyglutaric aciduria 1 | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003430708 | SCV004149720 | benign | not provided | 2022-11-01 | criteria provided, single submitter | clinical testing | D2HGDH: BS1, BS2 |
Prevention |
RCV003905263 | SCV004731556 | benign | D2HGDH-related condition | 2023-12-19 | 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). |
Genetic Services Laboratory, |
RCV000145799 | SCV000192936 | likely benign | not specified | no assertion criteria provided | clinical testing |