Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000217411 | SCV000275388 | likely benign | Hereditary cancer-predisposing syndrome | 2015-04-28 | 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, |
RCV000587131 | SCV000694061 | likely benign | not specified | 2019-08-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003534520 | SCV000816652 | likely benign | Familial adenomatous polyposis 1 | 2023-10-12 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000217411 | SCV002052426 | likely benign | Hereditary cancer-predisposing syndrome | 2021-05-17 | criteria provided, single submitter | clinical testing |