Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000187755 | SCV000241352 | likely benign | not specified | 2017-10-09 | 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 | RCV001034272 | SCV001197609 | benign | Koolen-de Vries syndrome | 2023-11-27 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV001289011 | SCV001476499 | likely benign | not provided | 2020-04-03 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001289011 | SCV004140753 | likely benign | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing | KANSL1: BP1, BS2 |