Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000162782 | SCV000213260 | likely benign | Hereditary cancer-predisposing syndrome | 2014-07-25 | 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 |
RCV001704158 | SCV000517440 | likely benign | not provided | 2020-07-13 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 26787654) |
Invitae | RCV000475798 | SCV000560991 | likely benign | Familial cancer of breast | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000162782 | SCV000684674 | likely benign | Hereditary cancer-predisposing syndrome | 2016-07-12 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000426763 | SCV000698812 | likely benign | not specified | 2019-08-28 | criteria provided, single submitter | clinical testing |