Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000166323 | SCV000217109 | likely benign | Hereditary cancer-predisposing syndrome | 2019-02-28 | 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 |
RCV000586073 | SCV000533862 | likely benign | not provided | 2019-04-04 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 15235020, 24845084, 15385441) |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000586073 | SCV000605886 | uncertain significance | not provided | 2020-07-29 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000586073 | SCV000699158 | uncertain significance | not provided | 2016-01-04 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000166323 | SCV001342847 | benign | Hereditary cancer-predisposing syndrome | 2015-10-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001432824 | SCV001635603 | likely benign | Hereditary breast ovarian cancer syndrome | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Sharing Clinical Reports Project |
RCV000077577 | SCV000109380 | likely benign | Breast-ovarian cancer, familial, susceptibility to, 1 | 2012-08-03 | no assertion criteria provided | clinical testing | |
Breast Cancer Information Core |
RCV000077577 | SCV000145122 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 1 | 2002-05-29 | no assertion criteria provided | clinical testing |