Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000897427 | SCV001041571 | benign | Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 | 2024-01-16 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001564970 | SCV001788221 | likely benign | not provided | 2021-06-08 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003950496 | SCV004775492 | likely benign | COL1A2-related condition | 2020-01-29 | 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). |