Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000167452 | SCV000218308 | likely benign | Hereditary cancer-predisposing syndrome | 2014-12-31 | 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 | RCV000412265 | SCV000488833 | likely benign | Lynch syndrome 5 | 2016-06-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000436719 | SCV000513683 | likely benign | not specified | 2017-12-19 | 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 | RCV000473073 | SCV000561437 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2024-01-05 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000167452 | SCV000906505 | likely benign | Hereditary cancer-predisposing syndrome | 2016-04-26 | criteria provided, single submitter | clinical testing | |
Myriad Genetics, |
RCV000412265 | SCV004018891 | 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. |
All of Us Research Program, |
RCV003995593 | SCV004839473 | likely benign | Lynch syndrome | 2023-12-14 | criteria provided, single submitter | clinical testing |