Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001579453 | SCV000513666 | likely benign | not provided | 2019-10-21 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000556247 | SCV000625404 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-10-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000566069 | SCV000662245 | likely benign | Hereditary cancer-predisposing syndrome | 2017-05-10 | 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. |
Color Diagnostics, |
RCV000566069 | SCV000685069 | likely benign | Hereditary cancer-predisposing syndrome | 2016-09-23 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV003150200 | SCV003838310 | likely benign | Breast and/or ovarian cancer | 2022-03-07 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001579453 | SCV004220992 | likely benign | not provided | 2023-06-20 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV003995968 | SCV004826598 | likely benign | Lynch syndrome | 2023-11-20 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV001579453 | SCV001807317 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV001579453 | SCV001923141 | likely benign | not provided | no assertion criteria provided | clinical testing |