Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000869687 | SCV001011132 | likely benign | RYR1-Related Disorders | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV003514427 | SCV004358109 | likely benign | Malignant hyperthermia, susceptibility to, 1 | 2022-10-20 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003895304 | SCV004709132 | likely benign | RYR1-related condition | 2023-12-27 | 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). |