Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000552838 | SCV000646161 | likely benign | Osteogenesis imperfecta type 8 | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000609765 | SCV000727554 | likely benign | not specified | 2018-02-09 | 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. |
Genome- |
RCV000552838 | SCV004180811 | likely benign | Osteogenesis imperfecta type 8 | 2023-04-11 | criteria provided, single submitter | clinical testing |