Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003538546 | SCV000768334 | likely benign | Familial adenomatous polyposis 1 | 2023-12-12 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001022104 | SCV001183801 | likely benign | Hereditary cancer-predisposing syndrome | 2018-11-16 | 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, |
RCV001022104 | SCV001353577 | likely benign | Hereditary cancer-predisposing syndrome | 2019-04-03 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001800840 | SCV002046485 | benign | not provided | 2020-12-04 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV002307572 | SCV002600478 | likely benign | not specified | 2022-10-13 | criteria provided, single submitter | clinical testing |