Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000165965 | SCV000216722 | likely benign | Hereditary cancer-predisposing syndrome | 2021-12-15 | 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. |
Invitae | RCV003534449 | SCV000282844 | benign | Familial adenomatous polyposis 1 | 2023-11-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000236023 | SCV000292469 | uncertain significance | not provided | 2022-12-16 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Observed in an individual with early onset colorectal cancer (DeRycke et al., 2017); This variant is associated with the following publications: (PMID: 30122538, 28944238, 29245953, 18199528) |
Counsyl | RCV000228193 | SCV000784906 | uncertain significance | Familial adenomatous polyposis 1 | 2017-02-07 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000165965 | SCV000911015 | likely benign | Hereditary cancer-predisposing syndrome | 2017-01-17 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000165965 | SCV002527002 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-09-25 | criteria provided, single submitter | curation | |
Myriad Genetics, |
RCV000228193 | SCV004017858 | uncertain significance | Familial adenomatous polyposis 1 | 2023-02-16 | criteria provided, single submitter | clinical testing | This variant is classified as a variant of uncertain significance as there is insufficient evidence to determine its impact on protein function and/or cancer risk. |