Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000610641 | SCV000725682 | likely benign | not specified | 2017-12-08 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
ARUP Laboratories, |
RCV001811103 | SCV001471487 | likely benign | not provided | 2020-06-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002064216 | SCV002444456 | likely benign | Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 | 2022-05-27 | criteria provided, single submitter | clinical testing |