Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003651899 | SCV000562577 | likely benign | Familial adenomatous polyposis 1 | 2024-01-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000573060 | SCV000667255 | likely benign | Hereditary cancer-predisposing syndrome | 2015-07-17 | 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, |
RCV000573060 | SCV000681653 | likely benign | Hereditary cancer-predisposing syndrome | 2016-11-12 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001721542 | SCV000719954 | likely benign | not provided | 2020-10-19 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000609037 | SCV001337702 | likely benign | not specified | 2020-01-25 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000573060 | SCV002531893 | likely benign | Hereditary cancer-predisposing syndrome | 2021-10-07 | criteria provided, single submitter | curation | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001721542 | SCV004219355 | likely benign | not provided | 2023-07-28 | criteria provided, single submitter | clinical testing |