Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001697837 | SCV000525283 | likely benign | not provided | 2018-04-26 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003766280 | SCV000647668 | likely benign | Familial adenomatous polyposis 1 | 2023-11-08 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000579873 | SCV000681827 | likely benign | Hereditary cancer-predisposing syndrome | 2017-04-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000579873 | SCV001187880 | likely benign | Hereditary cancer-predisposing syndrome | 2018-02-19 | 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, |
RCV000425993 | SCV001361214 | likely benign | not specified | 2019-09-20 | criteria provided, single submitter | clinical testing |