Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000442828 | SCV000535518 | likely benign | not specified | 2018-02-22 | 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 | RCV000697747 | SCV000826374 | benign | Koolen-de Vries syndrome | 2021-11-22 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000697747 | SCV002802317 | likely benign | Koolen-de Vries syndrome | 2022-04-28 | criteria provided, single submitter | clinical testing |