Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000562917 | SCV000665919 | likely benign | Hereditary cancer-predisposing syndrome | 2017-04-12 | 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. |
Invitae | RCV001087293 | SCV000759364 | likely benign | Hereditary breast ovarian cancer syndrome | 2023-09-14 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000758784 | SCV000887619 | likely benign | not provided | 2020-07-17 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000562917 | SCV001340591 | likely benign | Hereditary cancer-predisposing syndrome | 2016-05-16 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001194379 | SCV001363872 | likely benign | not specified | 2020-10-30 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000758784 | SCV001840601 | benign | not provided | 2015-07-23 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000562917 | SCV002537989 | likely benign | Hereditary cancer-predisposing syndrome | 2021-09-18 | criteria provided, single submitter | curation |