Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000865711 | SCV001006722 | likely benign | RYR1-Related Disorders | 2023-07-03 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003892810 | SCV004714136 | likely benign | RYR1-related condition | 2021-06-02 | 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). |