Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000615597 | SCV000715021 | likely benign | not specified | 2017-08-07 | 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 | RCV002062845 | SCV002461704 | likely benign | Severe neonatal-onset encephalopathy with microcephaly | 2023-10-13 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003886418 | SCV004704194 | likely benign | not provided | 2023-12-01 | criteria provided, single submitter | clinical testing | MECP2: BP4, BP7 |