Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000568678 | SCV000672521 | likely benign | Hereditary cancer-predisposing syndrome | 2023-05-23 | 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, |
RCV000568678 | SCV000681571 | likely benign | Hereditary cancer-predisposing syndrome | 2023-06-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003534351 | SCV000827249 | likely benign | Familial adenomatous polyposis 1 | 2023-11-20 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001775597 | SCV002013922 | uncertain significance | not provided | 2023-08-01 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Observed in healthy individuals undergoing whole genome sequencing, as well as individuals with a personal or family history of breast cancer (Bodian et al., 2014; McDonald et al., 2022); This variant is associated with the following publications: (PMID: 25545608, 36315513, 24728327) |
Sema4, |
RCV000568678 | SCV002529436 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-02-15 | criteria provided, single submitter | curation | |
ITMI | RCV000120035 | SCV000084167 | not provided | not specified | 2013-09-19 | no assertion provided | reference population |