Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000169723 | SCV000169884 | benign | not specified | 2013-03-20 | 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. |
Molecular Genetics Laboratory, |
RCV000169723 | SCV000221265 | likely benign | not specified | 2015-03-02 | criteria provided, single submitter | clinical testing | This variant was interpreted as likely benign based on ACMG evidence categories BS2 BP6. |
Genome- |
RCV001800418 | SCV002045709 | benign | Mowat-Wilson syndrome | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001800418 | SCV002482952 | benign | Mowat-Wilson syndrome | 2024-02-01 | criteria provided, single submitter | clinical testing |