Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001430514 | SCV001633256 | likely benign | Glycogen storage disease, type II | 2020-08-29 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003940764 | SCV004751691 | likely benign | GAA-related condition | 2022-10-04 | 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). |