Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000241022 | SCV000578372 | 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/). |
Department of Medical Genetics, |
RCV000241022 | SCV000301427 | likely benign | Breast-ovarian cancer, familial, susceptibility to, 1 | 2016-05-01 | no assertion criteria provided | clinical testing |