Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000495139 | SCV000578444 | 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 | RCV000219235 | SCV000276545 | likely benign | Hereditary cancer-predisposing syndrome | 2018-05-17 | 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 |
RCV001705220 | SCV000516746 | likely benign | not provided | 2020-02-26 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000219235 | SCV000688335 | likely benign | Hereditary cancer-predisposing syndrome | 2017-06-20 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000443810 | SCV000698857 | likely benign | not specified | 2019-07-12 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000877023 | SCV001019692 | likely benign | Hereditary breast ovarian cancer syndrome | 2024-01-16 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001705220 | SCV002046938 | likely benign | not provided | 2021-01-23 | criteria provided, single submitter | clinical testing |