Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000530634 | SCV000659865 | benign | RYR1-related disorder | 2024-01-16 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV003514374 | SCV004358233 | likely benign | Malignant hyperthermia, susceptibility to, 1 | 2022-11-06 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000530634 | SCV004757937 | likely benign | RYR1-related disorder | 2019-04-01 | no assertion criteria provided | 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). |