Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001453806 | SCV001657511 | likely benign | Epileptic encephalopathy | 2020-07-16 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003973315 | SCV004795422 | likely benign | RYR3-related condition | 2020-02-04 | 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). |