Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000872006 | SCV001013751 | likely benign | Non-ketotic hyperglycinemia | 2024-01-10 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003908279 | SCV004727250 | likely benign | GLDC-related condition | 2019-08-01 | 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). |