Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000410478 | SCV000579073 | 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 | RCV000163413 | SCV000213956 | likely benign | Hereditary cancer-predisposing syndrome | 2014-07-24 | 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. |
Counsyl | RCV000410478 | SCV000489461 | likely benign | Breast-ovarian cancer, familial, susceptibility to, 2 | 2016-10-11 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000439422 | SCV000512358 | likely benign | not specified | 2017-08-11 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV000257954 | SCV000635353 | likely benign | Hereditary breast ovarian cancer syndrome | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000163413 | SCV000688860 | likely benign | Hereditary cancer-predisposing syndrome | 2016-06-22 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000439422 | SCV000694756 | likely benign | not specified | 2019-08-21 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV001798575 | SCV002043049 | likely benign | Breast and/or ovarian cancer | 2019-07-19 | criteria provided, single submitter | clinical testing |