Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001475437 | SCV001679627 | likely benign | RYR1-Related Disorders | 2024-01-17 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003895310 | SCV004713490 | likely benign | RYR1-related condition | 2020-10-12 | 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). |