Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000111775 | SCV000578215 | 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 | RCV000565919 | SCV000665891 | likely benign | Hereditary cancer-predisposing syndrome | 2016-12-13 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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 | RCV000111775 | SCV000784988 | likely benign | Breast-ovarian cancer, familial, susceptibility to, 1 | 2017-03-02 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001456934 | SCV001660728 | likely benign | Hereditary breast ovarian cancer syndrome | 2023-01-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001711163 | SCV001943898 | likely benign | not provided | 2019-11-13 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001711163 | SCV002046340 | likely benign | not provided | 2020-10-22 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000565919 | SCV002538097 | likely benign | Hereditary cancer-predisposing syndrome | 2021-11-22 | criteria provided, single submitter | curation | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV002271391 | SCV002555799 | likely benign | not specified | 2022-06-09 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000565919 | SCV004361030 | likely benign | Hereditary cancer-predisposing syndrome | 2023-07-20 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV000111775 | SCV004827284 | likely benign | Breast-ovarian cancer, familial, susceptibility to, 1 | 2023-11-30 | criteria provided, single submitter | clinical testing | |
Breast Cancer Information Core |
RCV000111775 | SCV000144309 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 1 | 2010-12-17 | no assertion criteria provided | clinical testing |