Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000126398 | SCV000169902 | benign | not specified | 2014-01-17 | 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 | RCV000459746 | SCV000559740 | benign | Koolen-de Vries syndrome | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003422014 | SCV004140735 | likely benign | not provided | 2023-06-01 | criteria provided, single submitter | clinical testing | KANSL1: BP4, BP7 |