Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000495104 | SCV000578315 | 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/). |
Invitae | RCV000228591 | SCV000289812 | likely benign | Hereditary breast ovarian cancer syndrome | 2023-10-26 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000566271 | SCV000668404 | likely benign | Hereditary cancer-predisposing syndrome | 2016-02-08 | 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, |
RCV000566271 | SCV000909007 | likely benign | Hereditary cancer-predisposing syndrome | 2017-10-08 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000781012 | SCV000918763 | likely benign | not specified | 2019-08-21 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001711638 | SCV001945400 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Cancer Genetics and Genomics Laboratory, |
RCV000228591 | SCV000586902 | uncertain significance | Hereditary breast ovarian cancer syndrome | 2016-04-14 | no assertion criteria provided | clinical testing |