Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001471001 | SCV001675102 | likely benign | Myofibrillar myopathy 3 | 2022-09-03 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003948229 | SCV004772753 | likely benign | MYOT-related disorder | 2019-02-19 | 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). |