Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000495666 | SCV000578179 | 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/). |
Ambry Genetics | RCV000222519 | SCV000275481 | likely benign | Hereditary cancer-predisposing syndrome | 2015-04-29 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Color Diagnostics, |
RCV000222519 | SCV000683193 | likely benign | Hereditary cancer-predisposing syndrome | 2017-01-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000638018 | SCV000759498 | likely benign | Hereditary breast ovarian cancer syndrome | 2023-08-22 | criteria provided, single submitter | clinical testing |