Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001476111 | SCV001680315 | likely benign | Glycogen storage disease, type V | 2023-12-19 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003900644 | SCV004716278 | likely benign | PYGM-related condition | 2023-08-10 | 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). |