Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000652930 | SCV000774802 | likely benign | Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 | 2023-12-27 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001312074 | SCV001502514 | likely benign | not provided | 2020-07-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001312074 | SCV001773369 | likely benign | not provided | 2020-10-20 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003937990 | SCV004747214 | likely benign | COL12A1-related condition | 2019-05-20 | 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). |