Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000652942 | SCV000774814 | likely benign | Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 | 2024-01-06 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001577829 | SCV001805294 | likely benign | not provided | 2020-07-20 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001577829 | SCV004159755 | likely benign | not provided | 2023-09-01 | criteria provided, single submitter | clinical testing | COL12A1: BP4, BP7 |
Prevention |
RCV003953203 | SCV004774668 | likely benign | COL12A1-related condition | 2023-12-21 | 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). |