Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001502933 | SCV001707773 | likely benign | Glycogen storage disease, type VII | 2023-09-27 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003921057 | SCV004735075 | likely benign | PFKM-related condition | 2020-08-03 | 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). |