Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000495434 | SCV000578322 | 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 | RCV000163767 | SCV000214348 | likely benign | Hereditary cancer-predisposing syndrome | 2015-07-02 | 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 | RCV000470941 | SCV000560268 | likely benign | Hereditary breast ovarian cancer syndrome | 2024-01-21 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000495434 | SCV000785189 | likely benign | Breast-ovarian cancer, familial, susceptibility to, 1 | 2017-05-26 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000163767 | SCV000911120 | likely benign | Hereditary cancer-predisposing syndrome | 2017-11-16 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001534248 | SCV001751155 | benign | not provided | 2015-07-06 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 30209399) |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001731411 | SCV001983630 | likely benign | not specified | 2021-09-07 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001534248 | SCV002046383 | likely benign | not provided | 2023-07-25 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000163767 | SCV002537871 | likely benign | Hereditary cancer-predisposing syndrome | 2021-12-17 | criteria provided, single submitter | curation | |
Brotman Baty Institute, |
RCV000495434 | SCV001242133 | not provided | Breast-ovarian cancer, familial, susceptibility to, 1 | no assertion provided | in vitro |