Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000478379 | SCV000572411 | uncertain significance | not provided | 2021-09-01 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (Lek 2016); Has not been previously published as pathogenic or benign to our knowledge; In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; This variant is associated with the following publications: (PMID: 28577310, 25790293) |
Invitae | RCV000556801 | SCV000646545 | likely benign | Colorectal cancer, susceptibility to, 10 | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002446941 | SCV002734785 | likely benign | Hereditary cancer-predisposing syndrome | 2018-02-16 | 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. |