Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000494883 | SCV000578183 | likely benign | Breast-ovarian cancer, familial, susceptibility to, 1 | 2017-06-29 | reviewed by expert panel | curation | Synonymous substitution variant, with low bioinformatic likelihood to result in a splicing aberration (Splicing prior probability 0.02; http://priors.hci.utah.edu/PRIORS/). |
Invitae | RCV000205110 | SCV000259461 | likely benign | Hereditary breast ovarian cancer syndrome | 2023-04-08 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV002258828 | SCV002538212 | likely benign | Hereditary cancer-predisposing syndrome | 2021-10-05 | criteria provided, single submitter | curation |