Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001801064 | SCV002046524 | uncertain significance | not provided | 2020-12-23 | criteria provided, single submitter | clinical testing | |
University of Washington Department of Laboratory Medicine, |
RCV003158952 | SCV003850633 | likely benign | Hereditary cancer-predisposing syndrome | 2023-03-23 | criteria provided, single submitter | curation | Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673). |