Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000495237 | SCV000578158 | 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 | RCV001430210 | SCV001632941 | likely benign | Hereditary breast ovarian cancer syndrome | 2019-04-29 | criteria provided, single submitter | clinical testing | |
Brotman Baty Institute, |
RCV000495237 | SCV001243226 | not provided | Breast-ovarian cancer, familial, susceptibility to, 1 | no assertion provided | in vitro |