Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000552072 | SCV000656163 | likely benign | Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 | 2024-01-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001591294 | SCV001817393 | likely benign | not provided | 2021-01-08 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001591294 | SCV002497431 | likely benign | not provided | 2022-06-01 | criteria provided, single submitter | clinical testing | COL12A1: BP4, BS2 |
Prevention |
RCV003905467 | SCV004726696 | likely benign | COL12A1-related condition | 2021-05-04 | 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). |