Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000924743 | SCV001070264 | likely benign | Hereditary breast ovarian cancer syndrome | 2023-02-23 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001010052 | SCV001170195 | likely benign | Hereditary cancer-predisposing syndrome | 2019-12-14 | 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV002298801 | SCV002598868 | likely benign | not specified | 2022-09-16 | criteria provided, single submitter | clinical testing |