Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000996897 | SCV001151880 | likely benign | not provided | 2019-03-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001489256 | SCV001693794 | likely benign | RYR1-Related Disorders | 2023-12-21 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003898017 | SCV004710862 | likely benign | RYR1-related condition | 2021-09-09 | 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). |