Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000872216 | SCV001014001 | likely benign | Non-ketotic hyperglycinemia | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003975437 | SCV004791094 | likely benign | GLDC-related condition | 2019-08-07 | 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). |
Natera, |
RCV000872216 | SCV001462774 | uncertain significance | Non-ketotic hyperglycinemia | 2020-01-24 | no assertion criteria provided | clinical testing |