Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002542204 | SCV001073252 | likely benign | Bethlem myopathy 1 | 2022-02-12 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003895639 | SCV004711274 | likely benign | COL6A3-related condition | 2023-10-02 | 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). |