Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001472879 | SCV001677020 | likely benign | Glycogen storage disease, type VII | 2024-01-12 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003980393 | SCV004788854 | likely benign | PFKM-related condition | 2019-04-01 | 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, |
RCV001472879 | SCV002091079 | likely benign | Glycogen storage disease, type VII | 2020-04-14 | no assertion criteria provided | clinical testing |