Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000164589 | SCV000215248 | likely benign | Hereditary cancer-predisposing syndrome | 2014-11-19 | 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. |
Gene |
RCV000601523 | SCV000714434 | likely benign | not specified | 2017-03-16 | 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. |
Invitae | RCV001391337 | SCV000751283 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000164589 | SCV000908652 | likely benign | Hereditary cancer-predisposing syndrome | 2017-01-12 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000630327 | SCV004220865 | benign | not provided | 2023-08-08 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV003997121 | SCV004843247 | likely benign | Lynch syndrome | 2023-05-31 | criteria provided, single submitter | clinical testing | |
Department of Pathology and Laboratory Medicine, |
RCV000630327 | SCV001553360 | uncertain significance | not provided | no assertion criteria provided | clinical testing |