Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000989940 | SCV000766401 | benign | Koolen-de Vries syndrome | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000989940 | SCV001140681 | likely benign | Koolen-de Vries syndrome | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001565445 | SCV001788787 | likely benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001565445 | SCV004140732 | benign | not provided | 2023-03-01 | criteria provided, single submitter | clinical testing | KANSL1: BS1, BS2 |
Gene |
RCV000187735 | SCV000241332 | benign | not specified | 2016-08-22 | flagged submission | 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. |