Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000165568 | SCV000216302 | likely benign | Hereditary cancer-predisposing syndrome | 2014-08-21 | 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. |
Counsyl | RCV000409683 | SCV000489406 | likely benign | Lynch syndrome 5 | 2016-09-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000456153 | SCV000551079 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2024-01-11 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000165568 | SCV000690327 | likely benign | Hereditary cancer-predisposing syndrome | 2017-03-03 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001532965 | SCV001748787 | likely benign | not specified | 2021-07-03 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001356614 | SCV001940730 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Myriad Genetics, |
RCV000409683 | SCV004018920 | benign | Lynch syndrome 5 | 2023-03-28 | criteria provided, single submitter | clinical testing | This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing. |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001356614 | SCV004221212 | likely benign | not provided | 2023-04-11 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV003995432 | SCV004842794 | likely benign | Lynch syndrome | 2023-07-07 | criteria provided, single submitter | clinical testing | |
Department of Pathology and Laboratory Medicine, |
RCV001356614 | SCV001551830 | uncertain significance | not provided | no assertion criteria provided | clinical testing |