Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000952051 | SCV001098517 | likely benign | Bethlem myopathy 1 | 2023-03-21 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003925951 | SCV004739682 | likely benign | COL6A2-related condition | 2019-05-22 | 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). |