Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000160645 | SCV000211247 | benign | not specified | 2014-07-30 | 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. |
Counsyl | RCV000412435 | SCV000488392 | likely benign | Lynch syndrome 1 | 2016-03-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000547785 | SCV000625248 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-12-13 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000774566 | SCV000908301 | likely benign | Hereditary cancer-predisposing syndrome | 2018-05-21 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000160645 | SCV000919701 | likely benign | not specified | 2019-08-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000774566 | SCV001171172 | likely benign | Hereditary cancer-predisposing syndrome | 2015-12-02 | 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. |
Myriad Genetics, |
RCV000412435 | SCV004018322 | benign | Lynch syndrome 1 | 2023-03-20 | 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, |
RCV003998487 | SCV004832768 | likely benign | Lynch syndrome | 2023-05-23 | criteria provided, single submitter | clinical testing |