Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000410730 | SCV000578147 | 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 | RCV000167266 | SCV000218107 | likely benign | Hereditary cancer-predisposing syndrome | 2014-12-15 | 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 | RCV000410730 | SCV000488680 | likely benign | Breast-ovarian cancer, familial, susceptibility to, 1 | 2016-05-25 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000476560 | SCV000560306 | likely benign | Hereditary breast ovarian cancer syndrome | 2023-12-27 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000167266 | SCV000909329 | likely benign | Hereditary cancer-predisposing syndrome | 2018-09-26 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001193771 | SCV001362869 | likely benign | not specified | 2019-08-11 | criteria provided, single submitter | clinical testing |