Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000602397 | SCV000719392 | likely benign | not specified | 2017-05-15 | 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 | RCV003638623 | SCV004489442 | likely benign | Severe neonatal-onset encephalopathy with microcephaly | 2023-11-10 | criteria provided, single submitter | clinical testing | |
Rett |
RCV000132915 | SCV000187896 | not provided | not provided | no assertion provided | not provided |