Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000495094 | SCV000578066 | 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/). |
Center for Genomic Medicine, |
RCV002268126 | SCV002550945 | benign | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV003584631 | SCV004360119 | likely benign | Hereditary cancer-predisposing syndrome | 2021-10-01 | criteria provided, single submitter | clinical testing | |
Brotman Baty Institute, |
RCV000495094 | SCV001238110 | not provided | Breast-ovarian cancer, familial, susceptibility to, 1 | no assertion provided | in vitro |