Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001277404 | SCV001658462 | likely benign | Glycogen storage disease, type VII | 2023-12-22 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003938592 | SCV004750027 | likely benign | PFKM-related condition | 2019-06-25 | 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, |
RCV001277404 | SCV001464353 | uncertain significance | Glycogen storage disease, type VII | 2020-05-19 | no assertion criteria provided | clinical testing |