Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000893846 | SCV001037806 | likely benign | RYR1-Related Disorders | 2023-12-12 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003884792 | SCV004702660 | uncertain significance | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | RYR1: PM2, BP4 |
Prevention |
RCV003950429 | SCV004764452 | likely benign | RYR1-related condition | 2022-09-19 | 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). |