Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000670301 | SCV000795136 | likely benign | Non-ketotic hyperglycinemia | 2017-10-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000670301 | SCV001012941 | likely benign | Non-ketotic hyperglycinemia | 2024-01-12 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003918108 | SCV004730678 | likely benign | AMT-related condition | 2019-05-10 | 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, |
RCV000670301 | SCV001460886 | likely benign | Non-ketotic hyperglycinemia | 2019-12-29 | no assertion criteria provided | clinical testing |