Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000111526 | SCV000578422 | 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/). |
Gene |
RCV000587592 | SCV000515954 | likely benign | not provided | 2018-08-07 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 15876480) |
Ambry Genetics | RCV000575991 | SCV000660979 | 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, |
RCV000575991 | SCV000683382 | likely benign | Hereditary cancer-predisposing syndrome | 2016-12-22 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000421881 | SCV000699325 | likely benign | not specified | 2019-08-21 | criteria provided, single submitter | clinical testing | |
Preventiongenetics, |
RCV000587592 | SCV000806990 | likely benign | not provided | 2017-03-27 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000421881 | SCV000888962 | benign | not specified | 2019-10-26 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001493049 | SCV001697671 | likely benign | Hereditary breast ovarian cancer syndrome | 2024-02-01 | criteria provided, single submitter | clinical testing | |
KCCC/NGS Laboratory, |
RCV000111526 | SCV004016802 | likely benign | Breast-ovarian cancer, familial, susceptibility to, 1 | 2023-07-07 | criteria provided, single submitter | clinical testing | |
Institute for Biomarker Research, |
RCV001493049 | SCV004228060 | likely benign | Hereditary breast ovarian cancer syndrome | 2023-12-12 | criteria provided, single submitter | clinical testing | |
Breast Cancer Information Core |
RCV000111526 | SCV000143977 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 1 | 2003-05-23 | no assertion criteria provided | clinical testing |