Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000601197 | SCV000729553 | likely benign | not specified | 2018-01-29 | 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 Inc | RCV000712282 | SCV000842732 | uncertain significance | not provided | 2018-03-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003638694 | SCV004452938 | likely benign | Severe neonatal-onset encephalopathy with microcephaly | 2023-04-16 | criteria provided, single submitter | clinical testing |