Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000441995 | SCV000520204 | likely benign | not specified | 2016-07-14 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Labcorp Genetics |
RCV000474763 | SCV000559212 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-12-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000576109 | SCV000673881 | likely benign | Hereditary cancer-predisposing syndrome | 2016-12-26 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |
Sema4, |
RCV000576109 | SCV002534457 | likely benign | Hereditary cancer-predisposing syndrome | 2021-05-20 | criteria provided, single submitter | curation | |
Breakthrough Genomics, |
RCV004711055 | SCV005263960 | likely benign | not provided | criteria provided, single submitter | not provided |