Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000817652 | SCV000958229 | benign | Hereditary breast ovarian cancer syndrome | 2023-07-17 | criteria provided, single submitter | clinical testing | |
University of Washington Department of Laboratory Medicine, |
RCV003158224 | SCV003851270 | 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). |