Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000444602 | SCV000533211 | likely benign | not specified | 2016-10-19 | 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. |
Athena Diagnostics | RCV000710778 | SCV000841082 | benign | not provided | 2018-08-14 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000710778 | SCV001471241 | benign | not provided | 2020-10-18 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002059989 | SCV002475411 | benign | Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 | 2024-01-31 | criteria provided, single submitter | clinical testing |