Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000608562 | SCV000714324 | likely benign | not specified | 2017-12-04 | 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. |
Invitae | RCV000692985 | SCV000820837 | likely benign | Mowat-Wilson syndrome | 2023-12-19 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000714222 | SCV000844916 | uncertain significance | not provided | 2017-09-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000692985 | SCV002045582 | uncertain significance | Mowat-Wilson syndrome | 2021-11-07 | criteria provided, single submitter | clinical testing |