Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000641198 | SCV000762836 | likely benign | Lethal congenital glycogen storage disease of heart | 2023-12-19 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004533351 | SCV004755864 | likely benign | PRKAG2-related disorder | 2019-06-07 | 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). |