Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000985395 | SCV001133541 | uncertain significance | not provided | 2019-02-12 | criteria provided, single submitter | clinical testing | |
University of Washington Department of Laboratory Medicine, |
RCV003158258 | SCV003849237 | 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). |
Invitae | RCV003645119 | SCV004378099 | likely benign | Hereditary breast ovarian cancer syndrome | 2023-06-22 | criteria provided, single submitter | clinical testing |