Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000569175 | SCV000672584 | likely benign | Hereditary cancer-predisposing syndrome | 2017-09-05 | 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, |
RCV000569175 | SCV000686813 | likely benign | Hereditary cancer-predisposing syndrome | 2016-06-08 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001722533 | SCV000729228 | likely benign | not provided | 2019-12-17 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003537193 | SCV001087501 | likely benign | Familial adenomatous polyposis 1 | 2024-01-11 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001824833 | SCV002074485 | likely benign | not specified | 2022-01-31 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001722533 | SCV004219411 | likely benign | not provided | 2022-12-15 | criteria provided, single submitter | clinical testing |