Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000212628 | SCV000211377 | benign | not specified | 2014-09-07 | 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. |
Ambry Genetics | RCV000160738 | SCV000216794 | likely benign | Hereditary cancer-predisposing syndrome | 2014-10-02 | 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. |
Invitae | RCV000199409 | SCV000253105 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2024-01-21 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000411382 | SCV000488065 | likely benign | Lynch syndrome 5 | 2015-12-18 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000160738 | SCV000690330 | likely benign | Hereditary cancer-predisposing syndrome | 2017-08-21 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000160738 | SCV002535804 | likely benign | Hereditary cancer-predisposing syndrome | 2021-09-15 | criteria provided, single submitter | curation | |
CHEO Genetics Diagnostic Laboratory, |
RCV003149980 | SCV003838313 | likely benign | Breast and/or ovarian cancer | 2022-08-25 | criteria provided, single submitter | clinical testing | |
Myriad Genetics, |
RCV000411382 | SCV004018907 | 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 | RCV003477577 | SCV004221214 | likely benign | not provided | 2022-11-04 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004535045 | SCV004735127 | likely benign | MSH6-related disorder | 2019-03-12 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
All of Us Research Program, |
RCV003998519 | SCV004828803 | likely benign | Lynch syndrome | 2023-08-15 | criteria provided, single submitter | clinical testing |