Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000867313 | SCV001008524 | likely benign | RYR1-Related Disorders | 2024-01-12 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003892150 | SCV004709300 | likely benign | RYR1-related condition | 2023-07-06 | 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). |