Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000410348 | SCV000578982 | likely benign | Breast-ovarian cancer, familial, susceptibility to, 2 | 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 | RCV000163179 | SCV000213700 | likely benign | Hereditary cancer-predisposing syndrome | 2014-12-09 | 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. |
Invitae | RCV000199751 | SCV000253028 | likely benign | Hereditary breast ovarian cancer syndrome | 2023-11-09 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV000768602 | SCV000324876 | uncertain significance | Breast and/or ovarian cancer | 2015-08-11 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000410348 | SCV000487824 | likely benign | Breast-ovarian cancer, familial, susceptibility to, 2 | 2015-11-18 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001721038 | SCV000532125 | likely benign | not provided | 2019-07-10 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000163179 | SCV000906148 | likely benign | Hereditary cancer-predisposing syndrome | 2017-01-22 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001721038 | SCV004220519 | likely benign | not provided | 2022-11-01 | criteria provided, single submitter | clinical testing |