Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000652931 | SCV000774803 | likely benign | Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 | 2023-12-28 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003892490 | SCV004715824 | likely benign | COL12A1-related condition | 2023-05-05 | 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). |