Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001428252 | SCV001630948 | likely benign | Glycogen storage disease type III | 2024-01-21 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003920928 | SCV004729732 | likely benign | AGL-related condition | 2019-04-04 | 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). |