Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001020214 | SCV001181664 | likely benign | Hereditary cancer-predisposing syndrome | 2019-09-19 | 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, |
RCV001199870 | SCV001370609 | likely benign | not specified | 2020-05-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001416734 | SCV001618919 | likely benign | Hereditary breast ovarian cancer syndrome | 2023-06-18 | criteria provided, single submitter | clinical testing |