Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001537813 | SCV000292824 | likely benign | not provided | 2019-05-09 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 32369273, 28726808, 26832770) |
Invitae | RCV003743687 | SCV000562653 | likely benign | Familial adenomatous polyposis 1 | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000491798 | SCV000579797 | likely benign | Hereditary cancer-predisposing syndrome | 2020-01-07 | 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. |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001537813 | SCV000600158 | likely benign | not provided | 2023-05-11 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000491798 | SCV000681881 | likely benign | Hereditary cancer-predisposing syndrome | 2022-05-10 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000491798 | SCV002528270 | likely benign | Hereditary cancer-predisposing syndrome | 2021-02-20 | criteria provided, single submitter | curation |