Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001449188 | SCV001652297 | likely benign | RYR1-Related Disorders | 2021-09-06 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003424428 | SCV004141587 | likely benign | not provided | 2022-09-01 | criteria provided, single submitter | clinical testing | RYR1: BP4, BP7 |
Prevention |
RCV003955774 | SCV004770906 | likely benign | RYR1-related condition | 2020-02-03 | 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). |