Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000495291 | SCV000578121 | 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 | RCV000163105 | SCV000213614 | likely benign | Hereditary cancer-predisposing syndrome | 2014-10-25 | 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. |
Gene |
RCV001721036 | SCV000520529 | likely benign | not provided | 2019-07-16 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 16267036, 30209399) |
Invitae | RCV000560483 | SCV000636000 | likely benign | Hereditary breast ovarian cancer syndrome | 2024-01-07 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000163105 | SCV000688525 | likely benign | Hereditary cancer-predisposing syndrome | 2017-08-30 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000432445 | SCV000699182 | likely benign | not specified | 2020-09-03 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001721036 | SCV002774157 | benign | not provided | 2021-07-16 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001721036 | SCV004140622 | likely benign | not provided | 2023-03-01 | criteria provided, single submitter | clinical testing | BRCA1: BP4, BP7 |
Brotman Baty Institute, |
RCV000495291 | SCV001243823 | not provided | Breast-ovarian cancer, familial, susceptibility to, 1 | no assertion provided | in vitro |