Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002235944 | SCV001021138 | likely benign | Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 | 2023-10-04 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002279595 | SCV002564802 | uncertain significance | Osteogenesis imperfecta | 2021-05-31 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003955773 | SCV004783728 | likely benign | COL1A2-related disorder | 2023-04-20 | 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). |