Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001199943 | SCV001370737 | likely benign | not specified | 2020-05-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001497612 | SCV001702347 | likely benign | Hereditary breast ovarian cancer syndrome | 2021-04-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002400076 | SCV002706921 | likely benign | Hereditary cancer-predisposing syndrome | 2015-12-06 | 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. |