Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000561844 | SCV000672531 | likely benign | Hereditary cancer-predisposing syndrome | 2016-11-30 | 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. |
Color Diagnostics, |
RCV000561844 | SCV001344230 | likely benign | Hereditary cancer-predisposing syndrome | 2019-06-19 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002232154 | SCV001593807 | likely benign | Familial adenomatous polyposis 1 | 2021-07-13 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001420741 | SCV001623081 | likely benign | not specified | 2021-04-23 | criteria provided, single submitter | clinical testing |