Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000213080 | SCV000169846 | benign | not specified | 2014-01-16 | 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. |
Mendelics | RCV000988020 | SCV001137567 | likely benign | Fanconi anemia complementation group U | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002055638 | SCV002377616 | benign | not provided | 2024-01-13 | criteria provided, single submitter | clinical testing | |
KCCC/NGS Laboratory, |
RCV000988020 | SCV004016294 | benign | Fanconi anemia complementation group U | 2023-07-07 | criteria provided, single submitter | clinical testing | |
University of Washington Department of Laboratory Medicine, |
RCV000126343 | SCV000265492 | likely benign | Hereditary cancer-predisposing syndrome | 2015-12-01 | no assertion criteria provided | clinical testing |