Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV003891925 | SCV000310279 | benign | COL12A1-related condition | 2020-09-03 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Invitae | RCV000652936 | SCV000774808 | benign | Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 | 2024-01-31 | criteria provided, single submitter | clinical testing |